Publications

Title	Author	Journal	Publication Date
Multicenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk	Gregory Idos	JCO Precision Oncology	03-28-2019
Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes	D. Mancini-DiNardo, T. Judkins, N. Woolstenhulme, C. Burton, J. Schoenberger, M. Ryder, A. Murray, N. Gutin, A. Theisen, J. Holladay, J. Craft, C. Arnell, K. Moyes, B. Roa	J. Exp. Clin. Cancer Res.	09-11-2014

Title	Author	Journal	Publication Date
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing	Thomas Slavin	Cancer Genetics	04-13-2019

Title	Author	Journal	Publication Date
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk	T. Judkins, B. Leclair, K. Bowles, N. Gutin, J. Trost, J. McCulloch, S. Bhatnagar, A. Murray, J. Craft, B. Wardell, M. Bastian, J. Mitchell, J. Chen, T. Tran, D. Williams, J. Potter, S. Jammulapati, M. Perry, B. Morris, B. Roa, K. Timms	BMC Cancer	04-02-2014

Title	Author	Journal	Publication Date
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle	Karla Bowles	Future Oncology	08-16-2018
Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.	Eric Rosenthal	Cancer Genetics	09-25-2017
Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women	Allison Kurian	JCO Precision Oncology	06-27-2017
Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel	Bradford Coffee, Hannah C. Cox, John Kidd, Scott Sizemore, Krystal Brown, Susan Manley, Debora Mancini-DiNardo	Cancer Genetics	01-16-2017
A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes	Saundra S. Buys, John F. Sandbach, Amanda Gammon, Gayle Patel, John Kidd, Krystal L. Brown, Lavania Sharma, Jennifer Saam, Johnathan Lancaster, Mary B. Daly	Cancer	01-13-2017
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes	Iain D. Kerr, Hannah C. Cox, Kelsey Moyes, Brent Evans, Brianna C. Burdett, Aric van Kan, Heather McElroy, Paris J. Vail, Krystal L. Brown, Dechie B. Sumampong, Nicholas J. Monteferrante, Kennedy L. Hardman, Aaron Theisen, Erin Mundt, Richard J. Wenstrup, Julie M. Eggington	Journal of Community Genetics	01-03-2017
Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing	Eric T. Rosenthal, Brent Evans, John Kidd, Krystal Brown, Heidi Gorringe, Michael van Orman, Susan Manley	Journal of the American College of Radiology	12-20-2016
Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm	Brian Morris, Elisha Hughes, Eric Rosenthal, Alexander Gutin, and Karla R. Bowles	BMC Genetics	07-01-2016

Title	Author	Journal	Publication Date
Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes	Shannon Gallagher	JAMA Network Open	07-01-2020
Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant	Paola Nix	JCO Precision Oncology	06-24-2020
Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk	Elisha Hughes	JCO Precision Oncology	06-08-2020
Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer	Allison W Kurian 1, Ryan Bernhisel 2, Katie Larson 2, Jennifer L Caswell-Jin 1, Aladdin H Shadyab 3, Heather Ochs-Balcom 4, Marcia L Stefanick 1		03-10-2020
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing	Debora Mancini-DiNardo 1, Thaddeus Judkins 2, John Kidd 2, Ryan Bernhisel 2, Courtney Daniels 2, Krystal Brown 2, Kirsten Meek 2, Jonathan Craft 2, Jayson Holladay 2, Brian Morris 2, Benjamin B Roa 2		10-17-2019
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically	Bradford Coffee 1, Hannah C Cox 1, Ryan Bernhisel 1, Susan Manley 1, Karla Bowles 1, Benjamin B Roa 1, Debora Mancini-DiNardo 1		09-23-2019
High risk of breast cancer in women with biallelic pathogenic variants in CHEK2	K Nones 1, J Johnson 2, F Newell 1, A M Patch 1, H Thorne 3, S H Kazakoff 1, X M de Luca 2, M T Parsons 4, K Ferguson 2, L E Reid 2, A E McCart Reed 2, S Srihari 5, V Lakis 1, A L Davidson 6, P Mukhopadhyay 1, O Holmes 7, Q Xu 7, S Wood 7, C Leonard 7, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB); J Beesley 8, J M Harris 9, D Barnes 10, A Degasperi 11, M A Ragan 12,		07-01-2019
Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting	Mark S DeFrancesco 1, Richard N Waldman, Melissa M Pearlstone, Dana Karanik, Ryan Bernhisel, Jennifer Logan, Lindsey Alico, Royce T Adkins		11-13-2018
Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing	Jacqueline Mersch 1, Nichole Brown 1, Sara Pirzadeh-Miller 1, Erin Mundt 2, Hannah C Cox 2, Krystal Brown 2, Melissa Aston 2, Lisa Esterling 2, Susan Manley 2, Theodora Ross 1		09-25-2018
Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain	I Esteban 1 2, M Vilaró 3, E Adrover 4, A Angulo 5, E Carrasco 1, N Gadea 6, A Sánchez 7, T Ocaña 7, G Llort 8, R Jover 9, J Cubiella 10, S Servitja 11, M Herráiz 12, L Cid 13, S Martínez 14, M J Oruezábal-Moreno 15, I Garau 16, S Khorrami 17, A Herreros-de-Tejada 18, R Morales 19, J M Cano 20, R Serrano 21, M H López-Ceballos 22, S González-Santiago 22, M J Juan-Fita 23, C Alonso-Cerezo 24, A Casas 25, B Graña 26, A Teulé 27, E Alba 28, A Antón 29, C Guillén-Ponce 30, A B Sánchez-H		03-26-2018
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history	Kari G Chaffee 1, Ann L Oberg 1, Robert R McWilliams 2, Neil Majithia 2, Brian A Allen 3, John Kidd 3, Nanda Singh 3, Anne-Renee Hartman 3, Richard J Wenstrup 3, Gloria M Petersen 1		07-20-2017
Increased Identification of Candidates for High-Risk Breast CancerÂ Screening Through Expanded Genetic Testing	Eric T Rosenthal 1, Brent Evans 2, John Kidd 2, Krystal Brown 2, Heidi Gorringe 2, Michael van Orman 2, Susan Manley 2		04-14-2017
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer	Rachel Pearlman 1, Wendy L Frankel 2, Benjamin Swanson 2, Weiqiang Zhao 2, Ahmet Yilmaz 2, Kristin Miller 2, Jason Bacher 2, Christopher Bigley 1, Lori Nelsen 1, Paul J Goodfellow 3, Richard M Goldberg 1, Electra Paskett 1, Peter G Shields 1, Jo L Freudenheim 4, Peter P Stanich 5, Ilene Lattimer 1, Mark Arnold 6, Sandya Liyanarachchi 7, Matthew Kalady 8, Brandie Heald 8, Carla Greenwood 9, Ian Paquette 10, Marla Prues 11, David J Draper 12, Carolyn Lindeman 12, J Philip Kuebler 13, Kelly Reynold		04-01-2017
Optimization of quality assurance to increase clinical utility and cost effectiveness of hereditary cancer testing	Serenedy Smith 1, Ingrid Marino 1, Jeanie Schaller 1, Christopher Arnell 1, Kelsey Moyes 1, Susan Manley 1		03-29-2017
Identification of pathogenic retrotransposon insertions in cancer predisposition genes	Yaping Qian 1, Debora Mancini-DiNardo 1, Thaddeus Judkins 1, Hannah C Cox 1, Krystal Brown 1, Maria Elias 1, Nanda Singh 1, Courtney Daniels 1, Jayson Holladay 1, Bradford Coffee 1, Karla R Bowles 1, Benjamin B Roa 2		03-29-2017
Enumeration and targeted analysis of KRAS, BRAF and PIK3CA mutations in CTCs captured by a label-free platform: Comparison to ctDNA and tissue in metastatic colorectal cancer	Evelyn Kidess-Sigal 1 2, Haiyan E Liu 3, Melanie M Triboulet 2, James Che 3, Vishnu C Ramani 2, Brendan C Visser 2, George A Poultsides 2, Teri A Longacre 4, Andre Marziali 5, Valentina Vysotskaia 6, Matthew Wiggin 5, Kyra Heirich 2, Violet Hanft 2, Ulrich Keilholz 7, Ingeborg Tinhofer 8, Jeffrey A Norton 2, Mark Lee 9, Elodie Sollier-Christen 3, Stefanie S Jeffrey 2		12-20-2016
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort	Kari L Ring 1, Amanda S Bruegl 2, Brian A Allen 3, Eric P Elkin 3, Nanda Singh 3, Anne-Renee Hartman 3, Molly S Daniels 1, Russell R Broaddus 4		11-29-2016
Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis	Michael Castro 1, Koah Vierkoetter 2, Douglas Prager 3, Shasta Montgomery 1, Kristin Sedgwick 4		07-21-2016
Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing	Kara N Maxwell 1, Steven N Hart 2, Joseph Vijai 3, Kasmintan A Schrader 4, Thomas P Slavin 5, Tinu Thomas 3, Bradley Wubbenhorst 6, Vignesh Ravichandran 3, Raymond M Moore 2, Chunling Hu 7, Lucia Guidugli 7, Brandon Wenz 6, Susan M Domchek 8, Mark E Robson 9, Csilla Szabo 10, Susan L Neuhausen 11, Jeffrey N Weitzel 5, Kenneth Offit 9, Fergus J Couch 7, Katherine L Nathanson 12		05-05-2016
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer	Nadine Tung 1, Nancy U Lin 2, John Kidd 2, Brian A Allen 2, Nanda Singh 2, Richard J Wenstrup 2, Anne-Renee Hartman 2, Eric P Winer 2, Judy E Garber 2		03-14-2016
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome	https://pubmed.ncbi.nlm.nih.gov/25980754/		05-14-2015
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk	Thaddeus Judkins 1, Benoît Leclair 2, Karla Bowles 3, Natalia Gutin 4, Jeff Trost 5, James McCulloch 6, Satish Bhatnagar 7, Adam Murray 8, Jonathan Craft 9, Bryan Wardell 10, Mark Bastian 11, Jeffrey Mitchell 12, Jian Chen 13, Thanh Tran 14, Deborah Williams 15, Jennifer Potter 16, Srikanth Jammulapati 17, Michael Perry 18, Brian Morris 19, Benjamin Roa 20, Kirsten Timms 21		04-02-2015
Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes	E T Rosenthal 1, K R Bowles 1, D Pruss 1, A van Kan 1, P J Vail 1, H McElroy 1, R J Wenstrup 1		02-11-2015
Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis	Jennifer Saam 1, Kelsey Moyes, Michelle Landon, Kayon Williams, Rajesh R Kaldate, Christopher Arnell, Richard Wenstrup		12-11-2014
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study	David B Zhen 1, Kari G Rabe 2, Steven Gallinger 3, Sapna Syngal 4, Ann G Schwartz 5, Michael G Goggins 6, Ralph H Hruban 6, Michele L Cote 5, Robert R McWilliams 7, Nicholas J Roberts 8, Lisa A Cannon-Albright 9, Donghui Li 10, Kelsey Moyes 11, Richard J Wenstrup 11, Anne-Renee Hartman 11, Daniela Seminara 12, Alison P Klein 6, Gloria M Petersen 2		11-20-2014
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis	M Landon 1, S Ceulemans, D S Saraiya, B Strike, C Arnell, L A Burbidge, K Moyes, A Theisen, P H Fernandes, J Q Ji, B Abbott, R R Kaldate, B Roa		05-10-2014
Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer	Priscilla H Fernandes 1, Jennifer Saam, Jenny Peterson, Elisha Hughes, Rajesh Kaldate, Shelly Cummings, Aaron Theisen, Sonia Chen, Jeffrey Trost, Benjamin B Roa		01-10-2014
The PREMM(1,2,6) Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History	Fay Kastrinos, Ewout W. Steyerberg, Rowena Mercado, Judith Balmaña, Spring Holter, Steven Gallinger, Kimberly D. Siegmund, James M. Church, Mark A. Jenkins, Noralane M. Lindor, Stephen N. Thibodeau, Lynn Anne Burbidge, Richard J. Wenstrup, Sapna Syngal	Gastroenterology	11-01-2012
Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome	Judith Balmaña, David H. Stockwell, Ewout W. Steyerberg, Elena M. Stoffel, Amie M. Deffenbaugh, Julia E. Reid, Brian Ward, Thomas Scholl, Brant Hendrickson, John Tazelaar, Lynn Anne Burbidge, Sapna Syngal	JAMA	09-27-2006

Title	Author	Publication Date
Comprehensive breast cancer (BC) risk assessment for CHEK2 carriers incorporating a polygenic risk score (PRS) and the Tyrer-Cuzick (TC) model	Shannon Hughes	06-04-2020
Characteristics and Clinical Correlations of Likely Mosaic Large Rearrangements Identified by a Hereditary Pan-Cancer NGS Panel Test	Shujuan Pan	04-03-2019
Validation of a combined residual risk score for healthy unaffected women presenting to breast cancer screening centers	Kathryn Dalton	06-03-2018
Pheno Analysis is a Highly Accurate and Robust Variant Classification Algorithm with High Tolerance for Reported Clinical History Errors	Karla Bowles	05-09-2018

Title	Author	Publication Date
The Role of Allele-Specific RNA Analysis in Hereditary Cancer Variant Classification	Erin Mundt	11-17-2020
Multigene assessment of genetic risk for multiple primary breast cancers.		10-26-2020
Polygenic Breast Cancer Risk Modification in Carriers of High and Intermediate Risk Gene Mutations	Elisha Hughes	12-14-2019
Cancer risks associated with pathogenic variants in the ataxia telangiectasia mutated (ATM) gene	Michael Hall	12-13-2019
RNA Research Program Continues to be a Valuable Tool in Variant Reclassification	Susana San Roman	11-05-2019
Clinical utility of hereditary cancer panel testing: impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations	Katie Johansen Taber	11-05-2019
A Novel Pathogenic Variant in APC Intron 14 Contributing to FAP	Maria Elias	11-03-2019
Case of a synonymous variant in MLH1 with clinical significance	Lindsay Kipnas	11-03-2019
Functional classification of selected exonic splicing variants occurring outside of 5’ and 3’ exon boundaries in cancer-predisposing genes	Paola Nix	10-17-2019
Common variants in PMS2CL that can present in PMS2 as pathogenic variants with extremely low frequencies	Shuiuan Pan	10-16-2019
Preventive Surgery after Multiplex Genetic Panel Testing (MGPT)	Gregory Idos	06-03-2019
Hereditary Cancer Genetic Testing Among Patients with Pancreatic Cancer	Nassim Taherlan	06-03-2019
A novel method for unbiased risk prediction and its application to the combined residual	Elisha Hughes	05-07-2019
Cancer Phenotype of Biallelic CHEK2 Mutation Carriers	Irene Rainville	05-07-2019
Opportunity for Cancer Prevention: 1 in 4 Unaffected Women Meet Hereditary Cancer Testing Criteria	Leslie Bucheit	05-05-2019
Pan-Cancer Panel Testing: Variation in Testing and Results by Ancestry	Eva Chalas	05-05-2019
Clinical Utility of Testing for PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D Management Changes and Patient Adherence to Provider Recommendations	Katie Johansen Taber	04-03-2019
Genetic Testing Contributes Significantly to Improved Identification of Women Eligible for Increased Breast Cancer Screening Compared to Remaining Lifetime Risk Models Alone	Heidi Gorringe	12-07-2018
Development and Validation of a Polygenic Score to Predict Breast Cancer Risk in Unaffected Hispanic Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel	Elisha Hughes	12-07-2018
Associations between Clinical Factors in v7.02 of the Tyrer-Cuzick Model and a SNP-Based European Ancestry Residual Risk Score	Elisha Hughes	12-07-2018
Defining the spectrum of germline variants among African American patients with triple negative breast cancer	Holly Pederson	12-05-2018
Promoting Breast Cancer Screening after Multiplex Genetic Testing and Genetic Counseling	Gregory E. Idos, MD	06-02-2018
Promoting Colorectal Cancer Screening after Multiplex Genetic Testing and Genetic Counseling	Gregory E. Idos, MD	06-02-2018
Comparison of Cancer Risks in Truncating versus Missense Pathogenic CHEK2 Variants	Erin Mundt	05-10-2018
Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk	Elisha Hughes	05-09-2018
Performance of current Hereditary Breast and Ovarian Cancer (HBOC) testing criteria for the detection of carriers of pathogenic variants in clinically significant breast cancer risk genes other than BRCA1/2	Eric Rosenthal	05-09-2018
Families with a Known Mutation in a Cancer Predisposition Gene: Is Single Site Testing Always the Best Option for Relatives?	Jamie Willmott	05-09-2018
Hereditary Cancer Genetic Testing in Community-Based Obstetrics and Gynecology Settings	Mark DeFrancesco	04-28-2018
Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel	Elisha Hughes	04-20-2018
Mosaic Deletion of the APC Gene is Associated with an Increased Risk of Hematological Malignancy	Heather LaBreche	04-13-2018
Variant Interpretation when Multiple Amino Acid Changes are Present at the Same Codon Position	Matthew Comeaux	04-12-2018
Evaluation Of Data Quality In Public Databases Is Critical Before Its UseAs Evidence In Clinical Variant Classification	Hannah Cox	04-12-2018
Inherited Germline Mutations in Men with Prostate Cancer	Robert Reid	02-09-2018
Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel	Elisha Hughes	12-06-2017
Spectrum of Pathogenic Variants in the Juvenile Polyposis Genes SMAD4 and BMPR1A Using a Multi-Gene Hereditary Cancer Panel	Melanie Jones, Kaylee Henson, Ryan Bernhisel, Michelle Landon, Bradford Coffee	10-20-2017
Genetic Testing Outcomes in Patients with Abnormal Immunohistochemistry (IHC) Staining of the Mismatch-Repair (MMR) Proteins	Shujuan Pan, Hannah C. Cox, Krystal Brown, Erin Mundt, Michelle Landon, Jamie Willmott, Heidi Gorringe, Karla Bowles, Bradford Coffee, Debora Mancini-DiNardo	10-20-2017
The Prevalence of Mosaicism in Common Cancer Susceptibility Genes from 232,328 Individuals Undergoing Sequential Testing	Thomas P. Slavin, Bradford Coffee, Hannah C. Cox, Ryan Bernhisel, Krystal Brown, Guido Marcucci, Jeffrey Weitzel, Susan L. Neuhausen, Debora Mancini-DiNardo	10-19-2017
Large Rearrangement Analysis in GREM1 and the Identification of Novel Deletions and Duplications	Debora Mancini-DiNardo, Erin Mundt, Thaddeus Judkins, Jayson Holladay, Karla R. Bowles, Benjamin B. Roa	10-18-2017
Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi‐Gene Hereditary Cancer Panel	Elisha Hughes, Thaddeus Judkins, Susanne Wagner, Eric Rosenthal, Richard Wenstrup, Jerry S Lanchbury, Alexander Gutin	09-15-2017
Variant Reclassification in a Clinical Cohort: A Decade of Experience	Jacqueline Mersch, Nichole Brown, Sara Pirzadeh-Miller, Erin Mundt, Hannah C Cox, Melissa Aston, Krystal Brown, Lisa Esterling, Susan Manley, Theodora Ross	09-15-2017
Performance of NCCN Guidelines in Identifying Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome: Results from a Large Cohort Study	Julie O. Culver, Charite Ricker, Duveen Sturgeon, Katherine Roth, Kerry E. Kingham, Rachel B. Koff, Katrina Lowstuter, Nicolette M. Chun, Alexandra Lebensohn, Courtney Rowe-Teeter, Peter Levonian, Kate Partynski, Karlena Lara-Otero, Christine Hong, Meredith A. Mills, Anne-Renee Hartman, Brian Allen, Krystal Brown, Kevin McDonnell , Uri Ladabaum, James M. Ford, Stephen B. Gruber, Allison Kurian, Gregory Idos	09-15-2017
Multi-Gene Hereditary Cancer Testing among Men with Breast Cancer	Krystal Brown, Gregory Calip, Ryan Bernhisel, Brent Evans, Eric Rosenthal, Jennifer Saam,Johnathan Lancaster, Kent Hoskins	06-05-2017
Quantifying Gender Ascertainment Bias in Hereditary Cancer Testing	Anthony Chen, Allison Anguiano, Ryan Bernhisel, Krystal Brown, Heidi Gorringe, Susan Manley	06-05-2017
Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel	Elisha Hughes, Thaddeus Judkins, Susanne Wagner, Richard Wenstrup, Jerry S. Lanchbury, Alexander Gutin	06-05-2017
Performance of Mutation Risk Prediction Models in a Racially Diverse Multi-Gene Panel Testing Cohort	Gregory E. Idos, Katherine Roth, Leah Naghi, Charité Ricker, Duveen Sturgeon, Julie Culver, Kerry Kingham, Rachel Koff, Nicollette M. Chun, Courtney Rowe-Teeter, Anne-Renee Hartman, Brian Allen, Brent Evans, Meredith Mills, Christine Hong, Kevin Mcdonnell, Uri Ladabaum, James M. Ford, Stephen B. Gruber, Allison W. Kurian	06-05-2017
Yield of Multiplex Panel Testing Exceeds Expert Opinion and Validated Prediction Models	Gregory E. Idos, Allison W. Kurian, Charité Ricker, Duveen Sturgeon, Julie Culver, Kerry Kingham, Rachel Koff, Nicolette M. Chun, Courtney Rowe-Teeter, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, John Kidd, Meredith Mills, Cindy Ma, Christine Hong, Kevin McDonnell, Uri Ladabaum, James M. Ford, Stephen B. Gruber	06-05-2017
Safety of Multiplex Gene Testing for Inherited Cancer Risk in a Fully Accrued Prospective Trial	Allison W. Kurian, Gregory Idos, Charité Ricker, Julie Culver, Duveen Sturgeon, Kerry E. Kingham, Rachel B. Koff, Katrina Lowstuter, Nicolette M. Chun, Courtney Rowe-Teeter, Katlyn Partynski, Anne-Renee Hartman, Brian Allen, John Kidd, Meredith A. Mills, Christine Hong, Kevin McDonnell, Uri Ladabaum, James M. Ford, and Stephen B. Gruber	06-05-2017
Prevalence and Characterization of Triplications in Genes Associated with Hereditary Cancers	eather G. LaBreche, Alison Brown, Thaddeus Judkins, Karla Bowles, Bradford Coffee	03-24-2017
Complexities in Hereditary Cancer Variant Classification: Three Case Examples	Erin Mundt, ; Paola Nix, Karla Bowles, Susan Manley	03-24-2017
Apparent Gene Conversion Event Detected in CHEK2 using Next Generation Sequencing Analysis	Shujuan Pan, Alison Brown, Jack Landon, Thaddeus Judkins, Irene Elliott, Matthew Comeaux, Karla Bowles, Debora Mancini-DiNardo	03-24-2017
Case Report: Sub-Clinical Fanconi Anemia in Siblings with Biallelic BRIP1 Mutations	Jamie Willmott, Maria Elias, Bryan Warf, Heidi Gorringe, Susan Manley	03-24-2017
A Significant Proportion of TP53 Pathogenic Variants Detected with a Hereditary Pan-Cancer NGS Panel Are Somatically Acquired	Bradford Coffee, Debora Mancini-DiNardo, Hannah C. Cox, Ryan Bernhisel, Susan Manley, Karla Bowles, Benjamin B. Roa	03-23-2017
A description of women with the pathogenic variants in the ovarian cancer risk genes BRIP1, RAD51C, RAD51D identified through clinical testing with a hereditary cancer panel	Lydia Usha, Susana San Roman, Heidi Gorringe, Ryan Bernhisel, Krystal Brown, Jennifer Saam, Susan Manley	03-15-2017
Genetic Testing for HBOC among Women with a Personal Diagnosis of Breast Cancer in Patients with Medicaid as Compared to Patients with Private Insurance	Paul Baron, Kisha Johnson-Isidore, Lisa Miller, Krystal Brown, John Kidd, Jennifer Saam	12-08-2016
Trends in Age of Breast Cancer Diagnosis for Women with Pathogenic Variants in Genes Associated with Increased Breast Cancer Risk	Heidi Gorringe, Eric Rosenthal, John Kidd, Ryan Bernhisel, Krystal Brown, Susan Manley	12-08-2016
NGS Facilitates Identification of Retrotransposon Insertional Mutations in Hereditary Cancer Genes	Y Qian, D. Mancini‐DiNardo, H.C. Cox, T. Judkins, M. Elias, N. Singh, K. Brown, B. Coffee, K. Bowles, B. Roa	10-20-2016
PMS2CL‐hybrid alleles containing PMS2 sequence and other PMS2CL‐derived large rearrangements: The importance of correct interpretation of dosage alteration analysis in PMS2	N. Singh, D. Mancini‐DiNardo, B. Leclair, K. Brown, E. Goossen, K. Bowles, B. Roa, M. Jones	10-20-2016
Characterization of TP53 Sequencing Variants Initially Detected in Peripheral Blood using NGS Analysis	Debora Mancini-DiNardo, Bradford Coffee, Hannah C. Cox, Krystal Brown, Susan Manley, Karla R. Bowles, Benjamin B. Roa	10-19-2016
Diagnostic Detection, Characterization & Classification of Partial Single Exon Large Rearrangements in Hereditary Cancer Genes	Benjamin B. Roa, Priscilla H. Fernandes, Brian Morris, Debora Mancini-DiNardo, Karla R. Bowles	10-19-2016
Prevalence of Monoallelic MUTYH Carrier Status in Patients of Varied Ancestries Ascertained for Clinical Hereditary Cancer Risk Testing	Brandie Leach, Eric Rosenthal, John Kidd, Krystal Brown, Heidi Gorringe, Susan Manley	10-03-2016
Unsuspected Lynch Syndrome due to Pathogenic Variants in MSH6 and PMS2	Eric Rosenthal, Jamie Willmott, John Kidd, Susan Manley	10-03-2016
Ancestry-Based Cancer Risks Associated with APC I1307K	Lavania Sharma, John Kidd, Krystal Brown, Heidi Gorringe, Michelle Landon, Susan Manley, Brandie Leach	09-30-2016
Average Age of Diagnosis of Ovarian Cancer for Women with Pathogenic Variants in BRIP1, RAD51C and RAD51D	Susana San Roman, Heidi Gorringe, Jennifer Saam, John Kidd, Susan Manley, Lydia Usha	09-30-2016
Identification of APC I1307K Among a Cohort of Patients Undergoing a Pan‐Cancer Gene Panel: Analysis of Ancestry‐Based Cancer History	Brandie Leach, John Kidd, Krystal Brown, Heidi Gorringe, Michelle Landon, Susan Manley, Lavania Sharma	09-29-2016
Favorable Psychosocial Outcomes in Higher or Moderate Risk Mutation Carriers Identified by Hereditary Cancer Panel Testing	Julie Culver, Charite Ricker, Allison W. Kurian, Rachel B. Koff, Duveen Sturgeon, Katrina Lowstuter, Christine Hong, Anne-Renee Hartman, Brian Allen, Courtney Rowe-Teeter, Kerry E. Kingham, Alexandra Lebensohn, Nicolette M. Chun, Peter Levonian, Iva M. Petrovchich, Meredith A. Mills, Kevin McDonnel , Uri Ladabaum, James M. Ford, Stephen B. Gruber, Gregory Idos	09-29-2016
Prevalence of germline cancer susceptibility gene mutations in a clinic-based series of colorectal cancer patients	Matthew B. Yurgelun, Brian Allen, Lauren K. Brais, Philip G. McNamara, Chinedu I. Ukaegbu, Hajime Uno, John Kidd, Nanda Singh, Jason L. Hornick, Richard J. Wenstrup, Charles S. Fuchs, Matthew H. Kulke, Anne-Renee Hartman, Sapna Syngal	06-07-2016
Safety of Multiplex Gene Testing for Inherited Cancer Risk: Interim Analysis of a Clinical Trial	Allison W. Kurian, Gregory Idos, Julie Culver, Charite Ricker, Rachel Koff, Duveen Sturgeon, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, John Kidd, Courtney Rowe-Teeter, Kerry Kingham, Nicolette Chun, Iva Petrovchich, Meredith Mills, Christine Hong, Kevin McDonnell, Uri Ladabaum, James Ford, and Stephen Gruber	06-07-2016
Detection of Somatic Variants in Peripheral Blood Lymphocytes Using a 25-Gene Hereditary Cancer Panel	Bradford Coffee, Hannah C. Cox, Scott Sizemore, Susan Manley, Debora Mancini-DiNardo	06-06-2016
Magnitude of Invasive Breast Cancer Risk Associated with Mutations Detected by Multiple-Gene Germline Sequencing in 95,561 Women	Michael J. Hall, Elisha Hughes, Elizabeth A. Handorf, Alexander Gutin, Brian Morris, Brian Allen, Anne-Renee Hartman, Allison W. Kurian	06-06-2016
Ovarian Cancer Risk Associated with Mutations Detected by Multiple-Gene Germline Sequencing in 95,561 Women	Allison W. Kurian, Elisha Hughes, Elizabeth Handorf, Alexander Gutin, Brian Allen, Anne-Renee Hartman, Michael J. Hall	06-06-2016
Yield of Multiplex Panel Testing Exceeds Expert Opinion and Validated Prediction Models	Gregory E Idos, Allison W Kurian, Charité Ricker , Duveen Sturgeon, Julie Culver, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, Kerry Kingham, Rachel Koff, Courtney-Rowe Teeter, Nicolette M. Chun , Meredith Mills, Iva Petrovchich, Christine Hong, John Kidd, Kevin McDonnell, Uri Ladabaum, James M Ford, Stephen B Gruber	06-06-2016
Genetic heterogeneity and survival among pancreatic adenocarcinoma (PDAC) patients with positive family history	Kari G. Chaffee, Robert R. McWilliams, Neil Majithia, Brian A. Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Ann L. Oberg, Gloria M. Petersen	06-04-2016
Enhancement of History Weighting Analysis to Accurately Classify Variants in High and Moderate Risk Cancer Panel Genes	Karla R. Bowles, Brian Morris, Elisha Hughes, Dmitry Pruss, Priscilla H. Fernandes, Benjamin B. Roa, Alexander Gutin	05-12-2016
Genetic Testing of Individuals Diagnosed with Breast or Ovarian Cancer who Meet Testing Guidelines: Trends in Utah, 2008-2012	S. Colonna, W. Kohlmann, S. Edwards, A. Gammon, J. Saam, C. Roundy, C. Sweeney, K. Herget, A. Fraser, S. Buys	05-12-2016
Outcomes of Chromosome Breakage Analysis as a Tool for BRCA2 Variant Reclassification	Erin Mundt, Heather McElroy, Paris Vail, Lisa Esterling, Susan B. Olson, Susan Manley	05-12-2016
Structural Biology in Variant Classification	Iain D. Kerr, Paola Nix, Lisa Esterling, Karla R. Bowles, Benjamin B. Roa, Susan Manley	05-12-2016
Are Cancer Risks for the CHEK2 Founder Mutation c.1100del Applicable to Other Pathogenic Variants in CHEK2?	Amanda Gammon, John Abernethy, Eric Rosenthal, Heidi Gorringe, Krystal Brown, John Kidd, Susan Manley	05-11-2016
RNA Research Program To Aid In The Reclassification Of Genetic Variants That Alter Splicing	M.Bryan Warf, Elizabeth Goossen, Jamie Willmott, Susana San Roman, Michelle Landon, Karla R. Bowles, Benjamin B. Roa	05-11-2016
Prevalence of BRCA1/2-Negative Women Who Qualify for Adjunctive Breast MRI Screening	Heidi Gorringe, Eric Rosenthal, Michael Van Orman, John Kidd, Krystal Brown, Royce T. Adkins	04-11-2016
Reclassification of Uncertain Variants Identified in High and Moderate Cancer Risk Genes Using History Weighting Analysis	Karla R. Bowles, Brian Morris, Elisha Hughes, Dmitry Pruss, Benjamin B. Roa, Alexander Gutin	03-11-2016
Detailed Review of Four Patients Affected with Cancer that were Previously Unaffected at the Time of Single Syndrome Testing and Subsequently had Pathogenic Variants Identified by a 25-Gene Panel	Allison Anguiano, Heidi Gorringe, John Kidd, Krystal Brown, Susan Manley	03-10-2016
Characterization of Li-Fraumeni syndrome diagnosed using a 25-gene hereditary cancer panel	Robert Lufkin, Thereasa Rich, Marianne Lotito, John Kidd, Jennifer Saam, Johnathan Lancaster	12-11-2015
Multiplex Identification of genetic etiologies among women with bilateral breast cancer using a 25-gene hereditary cancer panel	Jeffrey N Weitzel, Kathleen R Blazer, Bita Nehoray, John Kidd, Thomas P Slavin Jr., Ilana Solomon, Mariana Niell-Swiller, Christina Rybak, Jennifer Saam, Johnathan Lancaster	12-11-2015
The Patient Experience in a Prospective Trial of Multiple-Gene Panel Testing for Cancer Risk	Allison W. Kurian, Gregory Idos, Kevin McDonnell, Charite Ricker, Duveen Sturgeon, Julie Culver, Katrina Lowstutter, Anne-Renee Hartman, Brian Allen, Courtney Rowe-Teeter, Kerry E. Kingham, Rachel B. Koff, Alexandra Lebensohn, Nicolette M. Chun, Iva M. Petrovchich, Meredith A. Mills, Christine Hong, Uri Ladabaum, James M. Ford, Stephen B. Gruber	12-10-2015
Interim Analysis of Multiplex Gene Panel Testing for Inherited Susceptibility to Breast Cancer	Gregory E Idos, Allison W Kurian, Kevin Mcdonnell, Charite Ricker, Duveen Sturgeon, Julie Culver, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, Courtney-Rowe Teeter, Kerry Kingham, Rachel Koff, Alexandra Lebensohn, Nicollette M. Chun, Meredith Mills, Iva Petrovchich, Christine Hong, Uri Ladabaum, James M Ford, Stephen B Gruber	12-10-2015
Predisposing Germline Mutations in an Unselected Academic Breast Cancer (BC) Cohort	Judy E Garber, Nadine M Tung, Eric P Elkin, Brian A Allen, Nanda U Singh, Richard Wenstrup, Anne-Renee Hartman, Eric P Winer, Nancy U Lin	12-09-2015
Identification of a Recurrent Pathogenic Variant in BRIP1	Susana San Roman, Eric Rosenthal, John Kidd, Susan Manley	10-23-2015
Outcomes of multi-gene testing for inherited cancer risk in patients of varied ancestries	Eric Rosenthal, Heidi McCoy, John Kidd, Krystal Brown, Susan Manley	10-23-2015
Pedigree modeling demonstrates that family history performs poorly for the identification of women with inherited risks for breast cancer	Hannah C Cox, Eric Rosenthal, Richard Wenstrup, Benjamin B Roa, Karla R Bowles	10-22-2015
Hereditary Cancer Testing in Patients of Ashkenazi Jewish Ancestry in the Era of Panel Testing	Janice Rinsky, Michelle Landon, John Kidd, Krystal Brown, Eric Rosenthal, Susan Manley	10-22-2015
Pathogenic mutations identified in patients with 6 or more colon polyps	Kim Grace, Brandie Leach, John Kidd, Jennifer Saam, Johnathan Lancaster	10-22-2015
GI Gap in Genetic Testing for Inherited Susceptibility to Colorectal Cancer	GE Idos, AW Kurian, KJ Mcdonnell, CN Ricker, DY Sturgeon, JO Culver, K Lowstuter, AR Hartman, B Allen, CR Teeter, KE Kingham, R Koff, A Lebensohn, NM Chun, MA Mills, C Hong, U Ladabaum, JM Ford, SB Gruber	10-16-2015
Clinical Presentations of Patients and Families Identified with Pathogenic Variants in CDH1	Daphne Chen, Eric Rosenthal, Jennifer Saam, John Kidd, Rick Wenstrup	10-14-2015
Does this patient need to be tested for Lynch Syndrome? Assessing the reliability of family history for ascertainment	H. C. Cox, E. Rosenthal, Y. Qian, B. Coffee, R. Wenstrup, B. B. Roa, K. R. Bowles	10-09-2015
Examining severity of cancer history in patients with pathogenic variants in ATM	John Abernethy, Eric Rosenthal, John Kidd, Paris Vail, Susan Manley	10-08-2015
Detection of Large Rearrangements in a Pan-cancer Gene Panel using Next Generation Sequencing	Debora Mancini-DiNardo, Thaddeus Judkins, Courtney Daniels, Jonathan Craft, Jayson Holladay, Benjamin B. Roa	10-08-2015
Comparison of a Literature Search Algorithm and Curated Publication Database with the Literature Content of Other Locus Specific Databases	Lisa Esterling, Dru DiFrancesco, Paola Nix, Jean-Paul De La O, Bradford Coffee, Susan Manley	10-08-2015
Analytical validation of a saliva collection and DNA extraction protocol increases accessibility to hereditary pan-cancer panel testing	Jared Cassiano, Jack Landon, Elizabeth Goossen, Debora Mancini-DiNardo, Benoît Leclair, Benjamin B. Roa	10-08-2015
Identification of Retrotransposon Insertion Mutations in Hereditary Cancer	Yaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, Hanna C. Cox, Courtney Daniels, Jayson Holladay, Matthew Ryder, Bradford Coffee, Karla R. Bowles, Benjamin B. Roa	10-08-2015
RNA functional studies for the classification of germline variants of uncertain significance that may impair splicing	M.B. Warf, E. Goosen, D. Mancini-DiNardo, J. Willmott, Y. Qian, M. Landon, K. Rushton, K.R. Bowles, B.B. Roa	10-07-2015
Spectrum of Mutations Identified in a 25-Gene Hereditary Cancer Panel for Patients with Breast Cancer	Lavania Sharma, Brent Evans, John Abernethy, Heidi McCoy, Krystal Brown, Karen Copeland, Jennifer Saam, Michelle Landon, Richard Wenstrup	06-09-2015
Outcomes of Clinical Testing for 76,000 Patients Utilizing a Panel of 25 Genes Associated with Increased Risk for Breast, Ovarian, Colorectal, Endometrial, Gastric, Pancreatic, Melanoma, and Prostate Cancers	Eric T. Rosenthal, Krystal Brown, John Kidd, Heidi McCoy, Brent Evans, Jennifer Saam, Susan Manley, Richard J. Wenstrup	06-01-2015
Assessment of the Clinical Presentation of Patients with at Least Two Pathogenic Mutations on Multigene Panel Testing	Jeffrey N. Weitzel, Kathleen R. Blazer, Bita Nehoray, John Kidd, Thomas P. Slavin, Ilana Solomon, Mariana Niell-Swiller, Christina Rybak, Jennifer Saam	06-01-2015
A Study of Triple-Negative Breast Cancer Patients Tested with a 25-Gene Panel of Hereditary Cancer Genes	John F. Sandbach, Gayle Patel, Elisabeth King, Brent Evans, John Kidd, Lucy R. Langer, Krystal Brown, Richard J. Wenstrup, Jennifer Saam	06-01-2015
Multi-Gene Panel Testing in an Unselected Endometrial Cancer Cohort	Kari L. Ring, Amanda S. Bruegl, Brian A. Allen, Eric P. Elkin, Nanda Singh, Anne-Renee Hartman, Russell R. Broaddus	06-01-2015
CDKN2A Pathogenic Variants Identified in Patients Tested with a 25-Gene Hereditary Cancer Panel	John Abernethy, Eric Rosenthal, John Kidd, Heidi McCoy, Susan Manley	03-27-2015
Development of a Novel History Weighting Algorithm for the Reclassification of Genetic Variants Identified in Genes Associated with Lynch Syndrome	Karla R. Bowles, Brian Morris, Elisha Hughes, M. Bryan Warf, Richard Wenstrup, Benjamin B. Roa, Dmitry Pruss	03-27-2015
Utilization of Mutation Co-Occurrence (MCO) Analysis as Evidence for Benign and Likely Benign Variant Classification	Bradford Coffee, Dmitry Pruss, Brian Morris, Elisha Hughes, Richard Wenstrup, Benjamin B. Roa, Karla R. Bowles	03-27-2015
Validation of Utilizing In Trans Co-Occurrence or Homozygosity to Downgrade the Classification of Genetic Variants in the BRCA1, BRCA2 and Lynch Syndrome Genes	Priscilla H. Fernandes, Maria C. Elias, Lisa Esterling, Bradford Coffee, Benjamin B. Roa, Karla R. Bowles	03-26-2015
Dosage Analysis by Next Generation Sequencing and Microarray CGH Indicates Putative Processed Pseudogenes in SMAD4 and NBN	Debora Mancini-DiNardo, Thad Judkins, Maria C. Elias, Courtney Daniels, Ammon Marshall, Jayson Holladay, Yaping Ryan Qian, Benjamin Roa	03-26-2015
Experience in the Community Oncology Practice With a 25-Gene Hereditary Cancer Panel	Sami Diab, Patricia Rodriguez, Anna Leininger, Lisa Clark, Mike F. Janicek, Ellen B. Smith, John Sandbach, Jennifer Saam, Lucy Langer	12-12-2014
Spectrum of Mutations Identified in a 25-Gene Hereditary Cancer Panel for Patients with Breast Cancer	Lavania Sharma, Brent Evans, John Abernethy, Heidi McCoy, Jennifer Saam, Michelle Landon, Richard Wenstrup	12-12-2014
Complexities in genetic testing for allogeneic bone marrow transplant recipients and patients with hematologic malignancies	Debora Mancini-DiNardo, Michelle Landon, Brian Abbott, Janice Rinsky, Maria Elias, Benjamin Roa	10-21-2014
The predictive power of breast cancer family history in the clinic	Hannah C. Cox, Eric Rosenthal, Richard Wenstrup, Benjamin B. Roa, Karla R. Bowles	10-19-2014
Determining the clinical significance of BRCA1 and BRCA2 intronic and exonic splicing variants	Karla R. Bowles, Nanda Singh, Ulrike P. Kappes, Erin Mundt, Bryan Warf, Brian Morris, Dmitry Pruss, Benjamin B. Roa, Richard Wenstrup	09-18-2014
Detection of Pathogenic Mutations in Moderate Penetrance Breast Cancer Genes Significantly Increases the Number of Patients Identified as Candidates for Increased Screening	Eric Rosenthal, Heidi McCoy, Kelsey Moyes, Brent Evans, Richard Wenstrup	09-18-2014
A review of Lynch Syndrome patients with colon cancer with little or no family history by age: A diagnostic laboratories experience	Michelle Landon, Jennifer Saam, Brent Evans, Kelsey Moyes, Richard Wenstrup	09-15-2014
Clinical presentations of MMR mutation positive patients with no personal or family history of colon or endometrial cancer	Praveen Kaushik, Brent Evans, Kelsey Moyes, Michelle Landon, Jennifer Saam, Richard Wenstrup	09-15-2014
Analysis of Patients with Two Hereditary Cancers (Breast/Ovarian or Colon/Endometrial) Who Met NCCN Genetic Testing Criteria After Their First Cancer	Jennifer Saam, Kelsey Moyes, Christopher Arnell, Michelle Landon, Rajesh R. Kaldate, Brian Strike, Kayon Williams, Lynn Anne Burbidge, Brian Abbott	06-02-2014
Evaluation of Breast Cancer Incidence in Lynch Syndrome Patients by MMR Gene	Jamie Willmott, Adam Johnson, Kelsey Moyes, Brent Evans, Christopher Arnell, Michelle Landon	06-01-2014
Impact of 25-gene panel testing and integrated risk management tool on medical management in hereditary cancer syndrome evaluation	Lucy R. Langer, Laurie Korst, Larry J. Geier, Jennifer Saam, Kelsey Moyes, Brent Evans, Lee S. Schwartzberg	06-01-2014
The Clinical Experience - Hereditary Cancer Testing by a 25-Gene Panel	Elias Obeid, Andrea D. Forman, Michael J. Hall, Veda N. Giri, Susan V. Montgomery, Kim L. Rainey, Christina R. Rybak, Kelsey Moyes, Jennifer Saam, Mary B. Daly	06-01-2014
A prospective evaluation of the feasibility of process engineering intervention on the screening and testing of Lynch syndrome in individuals with a personal and/or family history of Lynch-associated cancers	James A. DiSario, Daniel G. Luba, Colleen Rock, Devki Saraiya, Kelsey Moyes, Kristen Rushton, Maydeen M. Ogara, Mona Raphael, Dayna Zimmerman, Kimmie Garrido, Evelyn Silguero, Jonathan Nelson, Brian L. Abbott, Fay Kastrinos, Richard J. Wenstrup, Sapna Syngal	05-06-2014
Determining the Clinical Significance of Silent BRCA1 and BRCA2 Sequencing Variants	Karla R. Bowles, Brian Morris, Dmitry Pruss, Jack Ji, Nanda Singh, Benjamin B. Roa, Richard Wenstrup	03-28-2014
Align-GVGD, SIFT, Polyphen, MAPP-MMR, Grantham Analysis and Condel are Weak Predictors of the Clinical Significance for Missense Variants	Iain D. Kerr, Kelsey Moyes, Brianna C. Burdett, Aric van Kan, Heather McElroy, Paris J. Vail, Dechie B. Sumampong, Nicholas J. Monteferrante, Kennedy L. Hardman, Richard J. Wenstrup , Julie M. Eggington	03-28-2014
Clinical Laboratory Review of the Prevalence and Clinical Presentation of Patients with Biallelic Mismatch Repair Mutations	Kim Grace, Kelsey Moyes, Christopher Arnell, Michelle Landon, Richard J. Wenstrup	03-28-2014
Assessment of Laboratory-Based Quality Control Processes to Ensure Appropriate Utilization of Genetic Testing for Hereditary Cancer Risk	Serenedy Smith, Eric Rosenthal, Jeanie Schaller, Christopher Arnell, Kelsey Moyes, Susan Manley	03-27-2014
Evaluating the Personal and Family History Overlap Between Hereditary Cancer Syndromes	Jennifer Saam, Christopher Arnell, Kelsey Moyes, Kirstin M. Roundy, Ingrid Marino, Richard J. Wenstrup	03-14-2014
Patients with lynch syndrome gene mutations exhibit overlapping phenotypes with AFAP and FAP	Erin Heckaman, Kelsey Moyes, Christopher Arnell, Michelle Landon, Richard J. Wenstrup	01-18-2014
A Clinical History Weighting Algorithm Accurately Classifies BRCA1 and BRCA2 Variants	Karla R. Bowles, Brian Morris, Elisha Hughes, Julie M. Eggington, Lisa Esterling, Brandon S. Robinson, Aric van Kan, Benjamin B. Roa, Eric Rosenthal, Alexander Gutin, Richard Wenstrup, Dmitry Pruss	10-25-2013
Clinical Presentation of Patients With Mutations in the APC Regions Associated With AFAP	Praveen Kaushik, Kelsey Moyes, Christopher Arnell, Michelle Landon, Rick Wenstrup	10-25-2013
Development of a Next Generation Sequencing Panel to Assess Hereditary Cancer Risk that Includes Clinical Diagnostic Analysis of the BRCA1 and BRCA2 Genes	Benjamin Roa, Karla Bowles, Satish Bhatnagar, Natalia Gutin, Adam Murray, Bryan Wardell, Mark Bastian, Jeffrey Mitchell, Jian Chen, Thanh Tran, Deborah Williams, Jenny Potter, Srikanth Jammulapati, Michael Perry, Brian Morris, Kirsten Timms	10-24-2013
Prevalence of Lynch Syndrome Mutations in Patients With Colorectal and Endometrial Cancer Based on Decade of Diagnosis	Willonie Mendonca, Brian Strike, Michelle Landon, Kelsey Moyes, Christopher Arnell, Jennifer Saam, Brian L. Abbott	10-11-2013
Overlap Between Lynch Syndrome and Hereditary Breast and Ovarian Cancer Syndrome Among Family Histories in Patients Tested for Hereditary Cancer Syndromes	Jennifer Saam, Chris Arnell, Kelsey Moyes, Ingrid Marino, Rick Wenstrup	10-07-2013
Mutation Breakdown and Variant Rates in Lynch Syndrome	Kim Grace, Jeanie Schaller, Julie Eggington, Kelsey Moyes, Christopher Arnell	10-07-2013
Prevalence of Lynch Syndrome and HBOC Among Patients with Primary Endometrial and Ovarian Cancers	Jessica N. Everett, Shanna L. Gustafson, Barbara A. Corey, Devki S. Saraiya, Elena M. Stoffel, Kelsey Moyes, Jennifer Saam, Brian Abbott, and Victoria M. Raymond	10-07-2013
MSI-High Histology is a Predictive Risk Factor for Lynch Syndrome	Brian Strike, Jennifer Saam, Michelle Landon, Kelsey Moyes, Brian Abbott	10-07-2013
Early Onset Colorectal and Endometrial Cancer Correlates With High Lynch Syndrome Mutation Rate But Mutation Rate Remains High Even in Patients Diagnosed in Their 50s and 60s	Brian Strike, Michelle Landon, Kelsey Moyes, Christopher Arnell, Jennifer Saam, Brian Abbott	05-19-2013
Segregation Analysis Offers a Mechanism for Variant Reclassification in a Small Subset of Cases but is Especially Powerful in Classifying Deleterious Mutations	Julie Eggington, Jennifer Saam, Karla Bowles, Kelsey Moyes, Susan Manley, Lisa Esterling, Scott Sizemore, Christopher Arnell, Brandon Robinson, Eric Rosenthal, Jeremiah Bennett, Mark McKellar, Benjamin Roa and Richard Wenstrup	03-22-2013
Detection of Large Rearrangements in Hereditary Colorectal Cancer Using Microarray CGH	Debora Mancini-DiNardo, Thaddeus Judkins, Nick Woolstenhulme, Collin Burton, Sonia Chen, Jeremy Schoenberger, Matthew Ryder, Adam Murray, Natalia Gutin, Jayson Holladay, Jonathan Craft, Jeffrey Trost, Kelsey Moyes, Benjamin Roa	03-22-2013
Founder Mutation Versus Full sequencing of MYH for Increasing Clinical Sensitivity	Sophia Ceulemans, Christopher Arnell, Lynn Anne Burbidge, Kelsey Moyes, Brian Abbott, Rajesh R. Kaldate, Michelle Landon	01-25-2013
Detection of Large Rearrangements in BRCA1 and BRCA2 by Microarray-CGH	Debora Mancini-DiNardo, Thaddeus Judkins, Nick Woolstenhulme, Collin Burton, Sonia Chen, Jeremy Schoenberger, Matthew Ryder, Adam Murray, Marie Balzotti, Natalia Gutin, Jayson Holladay, Jonathan Craft, Carrie Colvin, Jeffrey Trost, Lynn Anne Burbidge, Christopher Arnell, Kelsey Moyes, Eric Rosenthal, Benjamin Roa	11-01-2012
Mutation Distribution and VUS Rates Among the Five Genes Currently Analyzed in Lynch Syndrome Testing	Jennifer Saam, Julie Eggington, Karla Bowles, Amanda Bodell, Lynn Anne Burbidge, Dmitry Pruss, Lisa Esterling, Benoît Leclair, Saradha Rajamani, Jeffrey Trost, Jack Landon, Richard Wenstrup, Benjamin Roa	10-01-2012
Mutation Analysis of PALB2 in Higher Risk and Lower Risk Patients Negative for BRCA1 and BRCA2 Mutations	Shelly Cummings, Jennifer Saam, Jenny Peterson, Elisha Hughes, Rajesh Kaldate, Sonia Chen, Je rey Trost, Christopher Arnell, Benjamin B. Roa, Priscilla H. Fernandes	09-13-2012
Profiling Uptake of Single Site Testing (SST) for Familial Cancer (CA) Risk in an Administrative Genetic Testing Database	Michael J Hall, Katen C McCully, Karthik Devarajan, Rajesh R Kaldate, Mary B Daly	06-06-2012
Current Variant of Uncertain Significance Rates in BRCA1/2 and Lynch Syndrome Testing (MLH1, MSH2, MSH6, PMS2, EPCAM)	Julie Eggington, Lynn Anne Burbidge, Benjamin Roa, Dmitry Pruss, Karla Bowles, Eric Rosenthal, Lisa Esterling, Richard Wenstrup	03-01-2012
Representation of PMS2 Mutations in Patients Seeking Genetic Testing for Lynch Syndrome	Karla R. Bowles, Benoit Leclair, Saradha Rajamani, Jeffrey Trost, Jack Landon, Benjamin Roa	03-01-2012
Prognostic Value of a Cell Cycle Expression Profile Score Among Men with Conservatively Treated Localized Prostate Cancer	Jack Cuzick, Gabrielle Fisher, Dan Berney, David Mesher, Henrik Møller, Jerry Lanchbury, Alexander Gutin, Steven Stone	10-02-2010

Title	Author	Journal	Publication Date
Prediction of Distant Recurrence using EndoPredict among Women with ER+, HER2- Node-Positive and Node-Negative Breast Cancer Treated with Endocrine Therapy Only	Martin Filipits	Clinical Cancer Research	07-01-2019
The genomic expression test EndoPredict is a prognostic tool for identifying risk of local recurrence in postmenopausal endocrine receptor-positive, her2neu-negative breast cancer patients randomised within the prospective ABCSG 8 trial	Fitzal et al	Br J Cancer	03-24-2015
The EndoPredict score provides prognostic information on late distant metastases in ER+/HER2− breast cancer patients.	Dubsky et al.	British Journal of Cancer	10-24-2013
Clinical validation of the EndoPredict test in node-positive chemotherapy-treated ER+/HER2- breast cancer patients: results from the GEICAM/9906 trial	Martin et al	Breast Cancer Res	07-31-2013
EndoPredict predicts for the response to neoadjuvant chemotherapy in ER-positive, HER2-negative breast cancer	Bertucci et al	Cancer Letters	03-07-2013
EndoPredict improves the prognostic classification derived from common clinical guidelines in ER-positive, HER2-negative early breast cancer	Dubsky et al	Ann Oncol	10-03-2012
A New Molecular Predictor of Distant Recurrence in ER-Positive, HER2-Negative Breast Cancer Adds Independent Information to Conventional Clinical Risk Factors	Martin Filipits, Margaretha Rudas, Raimund Jakesz, Peter Dubsky, Florian Fitzal, Christian F. Singer, Otto Dietze, Richard Greil, Andrea Jelen, Paul Sevelda, Christa Freibauer, Volkmar Müller, Fritz Jänicke, Marcus Schmidt, Heinz Kölbl, Achim Rody, Manfred Kaufmann, Werner Schroth, Hiltrud Brauch, Matthias Schwab, Peter Fritz, Karsten E. Weber, Inke S. Feder, Guido Hennig, Ralf Kronenwett, Mathias Gehrmann, and Michael Gnant	Clinical Cancer Research	09-01-2011

Title	Author	Journal	Publication Date
Prediction of Chemotherapy benefit by EndoPredict in Patients with Estrogen Receptor-Positive, HER2-Negative Breast Cancer who Received Adjuvant Endocrine Therapy plus Chemotherapy or Endocrine Therapy Alone	Ivana Sestak/Miguel Martin	Breast Cancer Research and Treatment	04-30-2019
Decision impact and feasibility of different ASCO-recommended biomarkers in early breast cancer: Prospective comparison of molecular marker EndoPredict and protein marker uPA/PAI-1	Johannes Ettl, Evelyn Klein, Alexander Hapfelmeier, Kirsten Grosse Lackmann, Stefan Paepke, Christoph Petry, Katja Specht, Laura Wolff, Heinz Höfler, Marion Kiechle	PLOS One	09-06-2017
The EndoPredict Gene-Expression Assay in Clinical Practice – Performance and Impact on Clinical Decisions	Müller et al	PLoS ONE	06-27-2013

Title	Author	Journal	Publication Date
Risk Assessment after Neoadjuvant Chemotherapy in Luminal Breast Cancer Using a Clinicomolecular Predictor	Sibylle Loibl	Clinical Cancer Research	07-15-2018
Preanalytical variables and performance of diagnostic RNA-based gene expression analysis in breast cancer	Poremba et al	Virchows Arch	09-14-2014
Decentral gene expression analysis: analytical validation of the Endopredict genomic multianalyte breast cancer prognosis test	Kronenwett et al		10-05-2012
Decentral gene expression analysis for ER+/Her2− breast cancer: results of a proficiency testing program for the EndoPredict assay	Carsten Denkert, Ralf Kronenwett, Werner Schlake, Kerstin Bohmann, Roland Penzel, Karsten E. Weber, Heinz Höfler, Ulrich Lehmann, Peter Schirmacher, Katja Specht, Margaretha Rudas, Hans-Heinrich Kreipe, Peter Schraml, Gudrun Schlake, Zsuzsanna Bago-Horvath, Frank Tiecke, Zsuzsanna Varga, Holger Moch, Marcus Schmidt, Judith Prinzler, Dontscho Kerjaschki, Bruno Valentin Sinn, Berit Maria Müller, Martin Filipits, Christoph Petry, Manfred Dietel	Virchows Archiv	02-28-2012
Comparison of the RNA-based EndoPredict multigene test between core biopsies and corresponding surgical breast cancer sections	Berit Maria Müller, Jan C Brase, Franziska Haufe, Karsten E Weber, Jan Budzies, Christoph Petry, Judith Prinzler, Ralf Kronenwett, Manfred Dietel, Carsten Denkert	Journal of Clinical Pathology	02-28-2012
Quantitative determination of estrogen receptor, progesterone receptor, and HER2 mRNA in formalin-fixed paraffin-embedded tissue–a new option for predictive biomarker assessment in breast cancer	Berit Müller, Ralf Kronenwett, Guido Hennig, Heike Euting, Karsten Weber, Kerstin Bohmann, Wilko Weichert, Gabriela Altmann, Claudia Roth, Klaus-Jürgen Winzer, Glen Kristiansen, Christoph Petry, Manfred Dietel, Carsten Denkert	Diagn Mol Pathol. 2011;20:1-10	03-01-2011

Title	Author	Journal	Publication Date
Comparison of the Performance of 6 Prognostic Signatures for Estrogen Receptor - Positive Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial	Ivana Sestak, Richard Buus, Jack Cuzick, Peter Dubsky, Ralf Kronenwett, Carsten Denkert, Sean Ferree, Dennis Sgroi, Catherine Schnabel, Frederick L. Baehner, Elizabeth Mallon, Mitch Dowsett	JAMA Oncology	02-15-2018
Comparison of risk classification between EndoPredict and MammaPrint in ER-positive/HER2-negative primary invasive breast cancer	Peláez-García et al	PLoS One	09-08-2017
From High-Throuput Microarray-Based Screening to Clinical Application: The Development of a Second Generation Multigen Test for Breast Cancer Prognosis	Brase et al	MDPI	08-29-2013
Comparison of EndoPredict and Oncotype DX test results in hormone receptor positive invasive breast cancer	Z Varga et al	PLoS One	03-07-2013

Title	Author	Publication Date
Evaluation of the 12-Gene Molecular Score and the 21-Gene Recurrence Score as Predictors of Response to Neo-adjuvant Chemotherapy in Estrogen Receptor-Positive, HER2-Negative Breast Cancer	Hatem Soliman 1, Susanne Wagner 2, Darl D Flake 2nd 2, Mark Robson 3, Lee Schwartzberg 4, Priyanka Sharma 5, Anthony Magliocco 1, Ralf Kronenwett 6, Johnathan M Lancaster 2, Jerry S Lanchbury 2, Alexander Gutin 2, William Gradishar 7	01-06-2020
Breast Cancer Prognostic Tests: Helping Patients Understand Testing Results and Their Implications	Lisa Miller 1, Edith C Smith 1	10-01-2019
Prediction of Distant Recurrence Using EndoPredict Among Women with ER(+), HER2(-) Node-Positive and Node-Negative Breast Cancer Treated with Endocrine Therapy Only	Martin Filipits 1, Peter Dubsky 2, Margaretha Rudas 3, Richard Greil 4, Marija Balic 5, Zsuzsanna Bago-Horvath 6, Christian F Singer 7, Dominik Hlauschek 8, Krystal Brown 9, Ryan Bernhisel 9, Ralf Kronenwett 10, Johnathan M Lancaster 9, Florian Fitzal 11, Michael Gnant 11	07-01-2019
Multi-gene assays: effect on chemotherapy use, toxicity and cost in estrogen receptor-positive early stage breast cancer	Lou Hochheiser 1, John Hornberger 2, Michelle Turner 2, Gary H Lyman 3	01-21-2019
Comparison of the Performance of 6 Prognostic Signatures for Estrogen Receptor-Positive Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial	Ivana Sestak 1, Richard Buus 2 3, Jack Cuzick 1, Peter Dubsky 4 5, Ralf Kronenwett 6, Carsten Denkert 7, Sean Ferree 8, Dennis Sgroi 9, Catherine Schnabel 10, Frederick L Baehner 11, Elizabeth Mallon 12, Mitch Dowsett 2 3	04-01-2018
Clinical relevance and concordance of HER2 status in local and central testing-an analysis of 1581 HER2-positive breast carcinomas over 12 years	Berit M Pfitzner 1, Bianca Lederer 2, Judith Lindner 1 3 4, Christine Solbach 5, Knut Engels 6, Mahdi Rezai 7, Karel Dohnal 8, Hans Tesch 9, Martin L Hansmann 10, Christoph Salat 11, Michaela Beer 12, Andreas Schneeweiss 13, Peter Sinn 14, Agnes Bankfalvi 15, Silvia Darb-Esfahani 1 16, Gunter von Minckwitz 2 5, Bruno V Sinn 1, Ralf Kronenwett 17, Karsten Weber 2, Carsten Denkert 1 3, Sibylle Loibl 2 18	12-22-2017
Analytical validation of a 12-gene molecular test for the prediction of distant recurrence in breast cancer	M Bryan Warf 1 1, Saradha Rajamani 2 2, Kristin Krappmann 3 3, Jennifer Doedt 3 3, Jared Cassiano 1 1, Krystal Brown 2 2, Julia E Reid 2 2, Ralf Kronenwett 3 3, Benjamin B Roa 1 1	06-05-2017
Prognostic ability of EndoPredict compared to research-based versions of the PAM50 risk of recurrence (ROR) scores in node-positive, estrogen receptor-positive, and HER2-negative breast cancer. A GEICAM/9906 sub-study	Miguel Martin 1, Jan C Brase 2, Amparo Ruiz 3, Aleix Prat 4, Ralf Kronenwett 2, Lourdes Calvo 5, Christoph Petry 2, Philip S Bernard 6, Manuel Ruiz-Borrego 7, Karsten E Weber 2, César A Rodriguez 8, Isabel M Alvarez 9, Miguel A Segui 10, Charles M Perou 11 12 13, Maribel Casas 14, Eva Carrasco 14, Rosalía Caballero 14, Alvaro Rodriguez-Lescure 15	02-24-2016
Prognostic Significance of VEGFC and VEGFR1 mRNA Expression According to HER2 Status in Breast Cancer: A Study of Primary Tumors from Patients with High-risk Early Breast Cancer Participating in a Randomized Hellenic Cooperative Oncology Group Trial	Helena Linardou 1, Konstantine T Kalogeras 2, Ralf Kronenwett 3, Zoi Alexopoulou 4, Ralph M Wirtz 5, Flora Zagouri 6, Chrisoula D Scopa 7, Helen Gogas 8, Kalliopi Petraki 9, Christos Christodoulou 10, Kitty Pavlakis 11, Angelos K Koutras 12, Epaminondas Samantas 13, Helen Patsea 14, Dimitrios Pectasides 15, Dimitrios Bafaloukos 16, George Fountzilas 17	07-01-2015
Tumor-infiltrating lymphocytes and response to neoadjuvant chemotherapy with or without carboplatin in human epidermal growth factor receptor 2-positive and triple-negative primary breast cancers	Carsten Denkert 1, Gunter von Minckwitz 2, Jan C Brase 2, Bruno V Sinn 2, Stephan Gade 2, Ralf Kronenwett 2, Berit M Pfitzner 2, Christoph Salat 2, Sherene Loi 2, Wolfgang D Schmitt 2, Christian Schem 2, Karin Fisch 2, Silvia Darb-Esfahani 2, Keyur Mehta 2, Christos Sotiriou 2, Stephan Wienert 2, Peter Klare 2, Fabrice André 2, Frederick Klauschen 2, Jens-Uwe Blohmer 2, Kristin Krappmann 2, Marcus Schmidt 2, Hans Tesch 2, Sherko Kümmel 2, Peter Sinn 2, Christian Jackisch 2, Manfred Dietel 2, T	12-22-2014
From High-Throughput Microarray-Based Screening to Clinical Application: The Development of a Second Generation Multigene Test for Breast Cancer Prognosis	https://pubmed.ncbi.nlm.nih.gov/?term=Brase+JC&cauthor_id=27605191	12-22-2014

Title	Author	Conference	Publication Date
A UCBG RANDOMIZED, DOUBLE BLIND, PHASE III INTERNATIONAL TRIAL EVALUATING THE ADDITION OF EVEROLIMUS TO ADJUVANT HORMONE THERAPY IN WOMEN WITH HIGH RISK HR+ AND HER2- PRIMARY BREAST CANCER	Jérôme Lemonnier		02-19-2021

Title	Author	Publication Date
Clinical Validation of EndoPredict in Pre-Menopausal Women with Estrogen Receptor-Positive (ER+), Human Epidermal Growth Factor Receptor 2-Negative (HER2-) Primary Breast Cancer	Anastasia Constantinidou	06-04-2021
Comparison of risk assessment in primary ER+, HER2- Breast Cancer in a real-world data set: classical pathological parameters vs. 12-gene molecular assay (EndoPredict)	Paul Jank	12-08-2020
Prediction of Distant Recurrence Using EndoPredict Among Women with ER-positive, HER2-negative Breast Cancer with a Maximum Follow-up of 16 Years	Martin Filipits	12-07-2018
Prediction of Distant Recurrence by EndoPredict in Patients with Estrogen Receptor-Positive, HER2-Negative Breast Cancer who Received Adjuvant Endocrine Therapy plus Chemotherapy (ET+C) or Endocrine Therapy Alone (ET)	Ivana Sestak	12-06-2018
RESCUE: REACHING FOR EVIDENCE-BASED CHEMOTHERAPY USE IN ENDOCRINE SENSITIVE BREAST CANCER, A prospective health care study on risk assessment by the clinicomolecular test EndoPredict® and long-term patient outcome in early luminal breast cancer	Johannes Ettl	12-05-2018
In Silico Evaluation of the 12-Gene Molecular Score (EndoPredict) and the Recurrence Score (Oncotype DX) as Predictors of Response to Neo-adjuvant Chemotherapy in Estrogen Receptor Positive, HER2 Negative Breast Cancer	Hatem Soliman, MD	06-02-2018
Predicting Expected Absolute Chemotherapy Treatment Benefit in Women with Early-Stage Breast Cancer using a 12-Gene Expression Assay	William Gradishar, MD	06-02-2018
UCBG 2-14: A prospective multicenter non-randomized trial evaluating the effect of EndoPredict® (EPclin®) clinicogenomic test on treatment decision making among patients with intermediate clinical risk	F Penault-Llorca, F Kwiatkovski, J Grenier, C Levy, M Leheurteur, L Uwer, O Derbel, A Le Rol, JP Jacquin, C Jouannaud, N Quenel-Tueux, V Girre, C Foa, E Guardiola, A Lortholary, S Catala, J Lemonnier, S Delaloge	12-08-2016

Title	Author	Journal	Publication Date
Practical Cancer Genetics and Genomics in Women's Health	Susan Modesitt 1, Holly J Pederson 2 3, Royce T Adkins 4		12-06-2019
Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines	Katherine Johansen Taber 1, Jeraldine Lim-Harashima 2, Harris Naemi 2, Jim Goldberg 1		11-06-2019
Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene	Genevieve M Gould 1, Peter V Grauman 1, Mark R Theilmann 1, Lindsay Spurka 1, Irving E Wang 1, Laura M Melroy 1, Robert G Chin 1, Dustin H Hite 1, Clement S Chu 1, Jared R Maguire 1, Gregory J Hogan 1, Dale Muzzey 2		09-28-2019
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort	Alana C. Cecchi Elizabeth S. Vengoechea Kristjan E. Kaseniit Melanie W. Hardy Laura A. Kiger Nikita Mehta Imran S. Haque Krista Moyer Patricia Z. Page Dale Muzzey Karen A. Grinzaid	Molecular Genetics & Genomic Medicine	07-10-2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening	Kristjan E. Kaseniit Elizabeth Collins Christine Lo Krista Moyer Rebecca Mar‐Heyming Hyunseok P. Kang Dale Muzzey	Clinical Genetics	06-06-2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel	Jun Shen 1 2 3, Andrea M Oza 4 5, Ignacio Del Castillo 6 7, Hatice Duzkale 8, Tatsuo Matsunaga 9, Arti Pandya 10, Hyunseok P Kang 11, Rebecca Mar-Heyming 11, Saurav Guha 11 12, Krista Moyer 11, Christine Lo 11, Margaret Kenna 13 5, John J Alexander 14 15, Yan Zhang 16, Yoel Hirsch 17, Minjie Luo 18 19, Ye Cao 20, Kwong Wai Choy 20, Yen-Fu Cheng 21 22 23, Karen B Avraham 24, Xinhua Hu 25, Gema Garrido 6 7, Miguel A Moreno-Pelayo 6 7, John Greinwald 8, Kejian Zhang 8, Yukun Zeng 16, Zippora Browns		06-04-2019
Sequencing as a first-line methodology for cystic fibrosis carrier screening	Kyle A. Beauchamp PhD, Katherine A. Johansen Taber PhD, Peter V. Grauman BS, Lindsay Spurka BA, Jeraldine Lim-Harashima MS CGC, Ashley Svenson MS CGC, James D. Goldberg MD & Dale Muzzey PhD	Nature: Genetics in Medicine	05-15-2019
Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening	Jennifer Thompson 1, Kristen Vogel Postula 2, Kenny Wong 3, Sara Spencer 4		03-19-2019
A data-driven evaluation of the size and content of expanded carrier screening panels	Rotem Ben-Shachar PhD, Ashley Svenson MS CGC, James D. Goldberg MD & Dale Muzzey PhD	Nature: Genetics in Medicine	02-28-2019
Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders	Kaylene Ready MS, CGC, Katherine A. Johansen Taber PhD, Natasha Bonhomme BA & J. Leonard Lichtenfeld MD	Nature: Genetics in Medicine	02-26-2019
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen	Kyle A. Beauchamp PhD, Katherine A. Johansen Taber PhD & Dale Muzzey PhD	Nature: Genetics in Medicine	02-14-2019
Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in >15,000 Germline DNA Screens	Dale Muzzey 1, Shera Kash 2, Jillian I Johnson 2, Laura M Melroy 2, Piotr Kaleta 2, Kelly A Pierce 2, Kaylene Ready 2, Hyunseok P Kang 2, Kevin R Haas 2		12-04-2018
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel	Jessica L Mester 1, Rajarshi Ghosh 2, Tina Pesaran 3, Robert Huether 4, Rachid Karam 3, Kathleen S Hruska 1, Helio A Costa 5, Katherine Lachlan 6 7, Joanne Ngeow 8, Jill Barnholtz-Sloan 9 10, Kaitlin Sesock 11, Felicia Hernandez 3, Liying Zhang 12, Laura Milko 13, Sharon E Plon 2, Madhuri Hegde 14 15, Charis Eng 9 10 16		11-03-2018
Clinical utility of expanded carrier screening: results-guided actionability and outcomes	Katherine A. Johansen Taber, PhD , Kyle A. Beauchamp, PhD , Gabriel A. Lazarin, MS , Dale Muzzey, PhD , Aishwarya Arjunan, MS, MPH and James D. Goldberg, MD	Genetics in Medicine	10-11-2018
Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene	Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan & Dale Muzzey	BMC Medical Genetics	09-29-2018
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification	Gregory J. Hogan, Valentina S. Vysotskaia, Kyle A. Beauchamp, Stefanie Seisenberger, Peter V. Grauman, Kevin R. Haas, Sun Hae Hong, Diana Jeon, Shera Kash, Henry H. Lai, Laura M. Melroy, Mark R. Theilmann, Clement S. Chu, Kevin Iori, Jared R. Maguire, Eric A. Evans, Imran S. Haque, Rebecca Mar-Heyming, Hyunseok P. Kang, Dale Muzzey	Clinical Chemistry	05-01-2018
Inherited Cancer in the Age of Next-Generation Sequencing	Kristin S. Price, MS, CGC, Ashley Svenson, MS, CGC, Elisabeth King, RN, FNP-C, AGN-BC, AOCNP, CBCN, Kaylene Ready, MS, CGC, Gabriel A. Lazarin, MS, CGC	Sage Journals: Biological Research For Nursing	01-11-2018
Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes	Leslie Bucheit, Katherine Johansen Taber & Kaylene Ready	BMC: Hereditary Cancer in Clinical Practice	01-11-2018
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At‐Risk Couples	Caroline E. Ghiossi James D. Goldberg Imran S. Haque Gabriel A. Lazarin Kenny K. Wong	Journal of Genetic Counseling	09-27-2017
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples	Caroline E Ghiossi 1, James D Goldberg 2, Imran S Haque 2, Gabriel A Lazarin 2, Kenny K Wong 2		09-27-2017
Systematic design and comparison of expanded carrier screening panels	Kyle A Beauchamp PhD, Dale Muzzey PhD, Kenny K Wong MS, CGC, Gregory J Hogan PhD, Kambiz Karimi PhD, Sophie I Candille PhD, Nikita Mehta MS, CGC, Rebecca Mar-Heyming PhD, K Eerik Kaseniit MEng, H Peter Kang MD, Eric A Evans PhD, James D Goldberg MD, Gabriel A Lazarin MS, CGC & Imran S Haque PhD	Nature: Genetics in Medicine	06-22-2017
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates	Gabriel A Lazarin 1, Imran S Haque 1, Eric A Evans 1, James D Goldberg 1		03-09-2017
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment	Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, Jared R. Maguire, Kaylene Ready, Eric A. Evans, Hyunseok P. Kang, Imran S. Haque	PeerJ: Bioinformatics and Genomics	02-23-2017
Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates†	Gabriel A. Lazarin Imran S. Haque Eric A. Evans James D. Goldberg	Obstetrics & Gynaecology: Prenatal Diagnosis	02-06-2017
Prenatal Carrier Screening	Imran S Haque 1, Gabriel A Lazarin 1, Ronald J Wapner 2		12-27-2016
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population	Nikita Mehta, Gabriel A. Lazarin, Erica Spiegel, Kathleen Berentsen, Kelly Brennan, Jessica Giordano, Imran S. Haque, and Ronald Wapner	Genetic Testing and Molecular Biomarkers	09-01-2016
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening	Imran S. Haque, PhD; Gabriel A. Lazarin, MS; H. Peter Kang, MD; et al	JAMA Network	08-16-2016
Re: Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children (From: Silver AJ, Larson JL, Silver MJ, et al. Genet Test Mol Biomarkers 2016;20:276–284)	Kenny K. Wong, James D. Goldberg, Eric A. Evans, Hyunseok Peter Kang, and Imran S. Haque	Mary Ann Liebert, Inc. publishers: Genetic Testing and Molecular Biomarkers	08-01-2016
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing	Hyunseok P. Kang, Jared R. Maguire, Clement S. Chu, Imran S. Haque, Henry Lai, Rebecca Mar-Heyming, Kaylene Ready, Valentina S. Vysotskaia, Eric A. Evans	PeerJ: Bioinformatics and Genomics	06-28-2016
Carrier screening in the era of expanding genetic technology	Aishwarya Arjunan MS, MPH, Karen Litwack LCSW, Nick Collins MS & Joel Charrow MD	Genetics in Medicine	04-07-2016
Current controversies in traditional and expanded carrier screening	Lazarin, Gabriel A.; Goldberg, James D.	Current Opinion in Obstetrics and Gynecology	04-01-2016
Genetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability	Lazarin GA, Detweiler S, Nazareth SB, Ashkinadze E.	Journal of Genetic Counseling	04-01-2016
Expanded carrier screening: A review of early implementation and literature	Gabriel A.LazarinMS & Imran S.HaquePhD	Seminars in Perinatology	02-01-2016
Changing trends in carrier screening for genetic disease in the United States	Shivani B. Nazareth, Gabriel A. Lazarin and James D. Goldberg	Prenatal Diagnosis	10-01-2015
Understanding the Basics of NGS: From Mechanism to Variant Calling	Dale Muzzey • Eric A. Evans • Caroline Lieber	Current Genetic Medicine Reports	09-04-2015
Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels	Gabriel A. Lazarin, Felicia Hawthorne, Nicholas S. Collins, Elizabeth A. Platt, Eric A. Evans, Imran S. Haque	PloS ONE	12-10-2014
Detection of Carriers in the Ashkenazi Jewish Population: An Objective Comparison of High-Throughput Genotyping Versus Gene-by-Gene Testing	Susan Klugman, Nicole Schreiber-Agus, Shivani Nazareth, and Eric A. Evans	Genetic Testing and Molecular Biomarkers	09-20-2013
Response to Stoll and Resta	Gabriel A. Lazarin MS, Imran S. Haque PhD, Shivani Nazareth MS & Eric A. Evans PhD	Genetics in Medicine	04-03-2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals	Gabriel A. Lazarin MS, Imran S. Haque PhD, Shivani Nazareth MS, Kevin Iori BS, A. Scott Patterson MA, Jessica L. Jacobson MD, John R. Marshall MD, William K. Seltzer PhD, FACMG, Pasquale Patrizio MD, Eric A. Evans PhD & Balaji S. Srinivasan PhD	Genetics in Medicine	09-13-2012
Knowledge and attitudes regarding expanded genetic carrier screening among women’s healthcare providers	Ready K, Haque IS, Srinivasan BS, Marshall JR.	Fertility and Sterility	02-01-2012
Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers	Kaylene Ready 1, Imran S Haque, Balaji S Srinivasan, John R Marshall		12-02-2011
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental‐targeted screening test	Yves Lacassie, John M. Storment, Gabriel A. Lazarin	American Journal of Medical Genetics Part A	11-03-2011
A universal carrier test for the long tail of Mendelian disease	Srinivasan BS, Evans EA, Flannick JF, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P.	Reproductive Biomedicine Online	10-01-2010

Title	Author	Publication Date
Improving Inequities in Prenatal Screening: Time to Modernize Guidelines	Edie Smith & Summer Pierson	05-23-2021
Contribution of Large Genomic Deletions to Recessive Mendelian Disease Carrier Burden within a Healthy Population	Sam Cox	04-16-2021
Addition of novel SNV and Indel identification via next-generation sequencing improves alpha thalassemia detection rate	Genevieve Gould	10-27-2020
Impact Analysis of PVS1 Criteria on Canonical Splice Variant Classifications	Katrina Tanaka	10-27-2020
Consistency of carrier screening guidelines across seven populations and 408,000 individuals	Aishwarya Arjunan	06-06-2020
Assessing the Consistency of Carrier Screening Guidelines	Summer Pierson	05-31-2020
Clinical Validity of Expanded Carrier Screening: Evaluating the Gene-Disease Relationship in more than 200 Conditions		03-18-2020
Fragile X carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines	Katie Johansen Taber	11-07-2019

Title	Author	Publication Date
Clinical Experience of an Alpha Thalassemia Carrier Screening Assay with an Increased Detection Rate Due to Novel Variant Calling	Genevieve Gould	10-18-2021
Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At-Risk Carrier Couples	Aishwarya Arjunan	04-30-2021
Expanded Carrier Screening: Adherence to Panel Criteria and Efficiency of At-Risk Couple Detection	Katie Johansen Taber	04-30-2021
The relationship between variant type and phenotype among diseases screened by the Foresight® Expanded Carrier Screen	Kambiz Karimi	11-17-2020
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel	Katie Johansen Taber	11-17-2020
Reducing Results Delivery Time for Couples Undergoing Carrier Screening: A "Tandem-Reflex” Strategy	Aishwarya Arjunan	10-30-2020
Application of a Severity Framework to 176 Genes on an Expanded Carrier Screening Panel	Aishwarya Arjunan	10-30-2020
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel	Katie Johansen Taber	10-19-2020
Detecting Novel Variants in Alpha Thalassemia Carriers	Genevieve Gould	03-20-2020
Application of a Severity Framework to 176 Conditions on an Expanded Carrier Screening Panel	Aishwarya Arjunan	11-07-2019
Minimizing Results Delivery Time for Couples Undergoing Carrier Screening by Using a Tandem-Submission-with-Partner-Reflex (“Tandem Reflex”) Strategy	Aishwarya Arjunan	11-07-2019
Clinical utility of hereditary cancer panel testing: impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations	Valentina Vysotskaia	11-05-2019
Assessing the Consistency of Carrier Screening Guidelines Across Seven Populations and 265,000 Individuals	Jamie Kostialik	10-21-2019
A deep learning model for accurate variant calling congenital adrenal hyperplasia	Sun Hong	10-16-2019
Accurate and high-resolution copy number variant detection in clinical germline screening	Jiani Li	10-16-2019
Leveraging large datasets accumulated through population carrier screening to inform variant classification	David Tran	10-16-2019
Fragile X carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines	Aishwarya Arjunan	10-15-2019
A “Tandem-Reflex” Strategy Minimizes Results Delivery Time for Couples Undergoing Carrier Screening	Aishwarya Arjunan	10-15-2019

Title	Author	Journal	Publication Date
Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk	Dale Muzzey 1 2, James D Goldberg 1, Carrie Haverty 1		12-20-2019
Inaccuracies and shortcomings in "Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations"	Katherine Johansen Taber 1, Carrie Haverty 2, Susan Hancock 2, James Goldberg 2		11-21-2019
Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management	Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Katherine Johansen Taber, Gabriel A. Lazarin, Elizabeth Denne, Dale Muzzey, and Carrie Haverty	Mary Ann Liebert, Inc. Publishers	02-26-2019
Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens	Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty & Dale Muzzey	BMC Medical Genetics	10-11-2018
Industry perspectives on prenatal genetic testing	Amy Swanson 1, James D Goldberg 2		07-26-2018
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF	John P Johnson 1, Jonathon Schoof 2, Linda Beischel 2 3, Corbin Schwancke 2, James Goldberg 4, Lauri Black 5, Lori Ross 6, Suchina Bhatt 7		04-13-2018
Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods	Carlo G Artieri 1, Carrie Haverty 1, Eric A Evans 1, James D Goldberg 1, Imran S Haque 1 2, Yuval Yaron 3, Dale Muzzey 1		05-03-2017
Noninvasive prenatal screening at low fetal fraction: comparingwhole-genome sequencing and single-nucleotide polymorphismmethods	Carlo G. Artieri Carrie Haverty Eric A. Evans James D. Goldberg Imran S. Haque Yuval Yaron Dale Muzzey	Obstetrics & Gynaecology: Prenatal Diagnosis	03-20-2017
Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening	Kristjan Eerik Kaseniit, Mark R. Theilmann, Alexander Robertson, Eric A. Evans, Imran S. Haque	Clinical Chemistry	09-01-2016

Title	Author	Publication Date
A noninvasive prenatal screen with >4% fetal fraction in all samples: Clinical laboratory experience	Rotem Ben-Shachar	10-13-2021
Can Expanded Carrier Screening Shorten the Diagnostic Odyssey in those with Genetic Disease?	Maysen Mesaros	09-21-2021
Clinical Experience for Noninvasive Prenatal Screen in Twins	Susan Hancock	11-17-2020
The Association of Maternal HBB Pathogenic Variant Status and Fetal Fraction in Non-invasive Prenatal Screening	Manesha Putra	02-03-2020

Title	Author	Publication Date
A noninvasive prenatal screen with >99.9% of patients with fetal fraction ≥4%	Rotem Ben-Shachar	09-21-2021
A noninvasive prenatal screen with >4% fetal fraction in all samples	Rotem Ben-Shachar	04-30-2021
A noninvasive prenatal screen with >4% fetal fraction in all samples: Clinical laboratory experience	Rotem Ben-Shachar	04-30-2021
Fetal Fraction Amplification in Noninvasive Prenatal Screening: Impact on Fetal Sex Chromosome Analysis	Susan Hancock	04-13-2021
High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening	Dale Muzzey	01-29-2021
High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening	Dale Muzzey	11-19-2020
Detecting Novel SNVs and Indels in Alpha Thalassemia Carriers	Aishwarya Arjunan	11-17-2020
A novel Bayesian hierarchical model for analytically validating the detection of common and rare autosomal aneuploidies from noninvasive prenatal screening of 44,420 samples	Raul Torres	10-27-2020
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care	Susan Hancock	03-20-2020
The Association of Maternal HBB Pathogenic Variant Status and Fetal Fraction in Non-Invasive Prenatal Screening	Dale Muzzey	03-19-2020
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care	Susan Hancock	11-07-2019
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care	Susan Hancock	11-07-2019
WGS-based NIPS Without a Fetal Fraction Threshold: What are the Clinical Outcomes of No-Calls?	Susan Hancock	11-05-2019
WGS-based NIPS Without a Fetal Fraction Threshold: What are the Clinical Outcomes of No-Calls?	Susan Hancock	11-05-2019

Title	Author	Publication Date
The clinical utility of combinatorial pharmacogenomic testing for patients with depression: a meta-analysis	Lisa Brown 1, Oliver Vranjkovic 1, James Li 2, Kunbo Yu 2, Talal Al Habbab 1, Holly Johnson 1, Krystal Brown 3, Michael R Jablonski 1, Bryan Dechairo 3	06-21-2020
Combinatorial PharmacogenomicTesting Improves Outcomes for Older Adults With Depression	Brent P Forester 1, Sagar V Parikh 2, Sara Weisenbach 3, Olusola Ajilore 4, Ipsit Vahia 5, Anthony J Rothschild 6, Michael E Thase 7, Boadie W Dunlop 8, Charles DeBattista 9, Charles R Conway 10, Richard C Shelton 11, Matthew Macaluso 12, James Li 13, Paul Traxler 13, Jennifer Logan 14, Lisa Brown 13, Bryan Dechairo 14, John F Greden 2	05-19-2020
Combinatorial Pharmacogenomic Algorithm is Predictive of Citalopram and Escitalopram Metabolism in Patients with Major Depressive Disorder	Richard C Shelton 1, Sagar V Parikh 2, Rebecca A Law 3, Anthony J Rothschild 4, Michael E Thase 5, Boadie W Dunlop 6, Charles DeBattista 7, Charles R Conway 8, Brent P Forester 9, Matthew Macaluso 10, Daniel T Hain 3, Aime Lopez Aguilar 3, Krystal Brown 11, David J Lewis 3, Michael R Jablonski 3, John F Greden 2	05-17-2020
Cost-effectiveness of combinatorial pharmacogenomic testing for depression from the Canadian public payer perspective	Julie-Anne Tanner 1, Paige E Davies 1, Christopher C Overall 2, Daniel Grima 3, Julian Nam 4, Bryan M Dechairo 2	04-17-2020
Comparing sensitivity to change using the 6-item versus the 17-item Hamilton depression rating scale in the GUIDED randomized controlled trial	Boadie W Dunlop 1, Sagar V Parikh 2, Anthony J Rothschild 3, Michael E Thase 4, Charles DeBattista 5, Charles R Conway 6, Brent P Forester 7, Francis M Mondimore 8, Richard C Shelton 9, Matthew Macaluso 10, Jennifer Logan 11, Paul Traxler 12, James Li 12, Holly Johnson 12, John F Greden 2	12-27-2019
Economic Outcomes Following Combinatorial Pharmacogenomic Testing for Elderly Psychiatric Patients	Michael R Jablonski 1, Raymond Lorenz 1, James Li 1, Bryan M Dechairo 1	12-17-2019
Economic Burden of Depression and Associated Resource Use in Manitoba, Canada	Julie-Anne Tanner 1 2 3, Jennifer Hensel 4, Paige E Davies 3, Lisa C Brown 5, Bryan M Dechairo 6, Benoit H Mulsant 7	12-13-2019
Canadian Medication Cost Savings Associated with Combinatorial Pharmacogenomic Guidance for Psychiatric Medications	Julie-Anne Tanner 1 2, Lisa C Brown 3, Kunbo Yu 3, James Li 3, Bryan M Dechairo 4	12-09-2019
Impact of Pharmacogenomics on Clinical Outcomes for Patients Taking Medications With Gene-Drug Interactions in a Randomized Controlled Trial	Michael E Thase 1 2, Sagar V Parikh 3, Anthony J Rothschild 4, Boadie W Dunlop 5, Charles DeBattista 6, Charles R Conway 7, Brent P Forester 8, Francis M Mondimore 9, Richard C Shelton 10, Matthew Macaluso 11, James Li 12, Krystal Brown 13, Michael R Jablonski 12, John F Greden 3	10-31-2019
Clinical Utilization of Pharmacogenetics in Psychiatry - Perspectives of Pharmacists, Genetic Counselors, Implementation Science, Clinicians, and Industry	Lisa Brown 1, Seenae Eum 2, Susanne B Haga 3, Jeffrey R Strawn 4, Heather Zierhut 2	09-12-2019
Response to: Goldberg et al. and Severance et al. Letters to the Editor: The clinical significance of improving remission over standard of care - The reality of treatment resistant-based therapies	John F Greden 1, Sagar V Parikh 2, Anthony J Rothschild 3, Michael E Thase 4, Boadie W Dunlop 5, Charles DeBattista 6, Charles R Conway 7, Brent P Forester 8, Francis M Mondimore 9, Richard C Shelton 10, Matthew Macaluso 11, James Li 12, Krystal Brown 13, Alexa Gilbert 12, Lindsey Burns 12, Michael R Jablonski 12, Bryan Dechairo 14	04-27-2019
CYP2D6 haplotypes with enhancer single-nucleotide polymorphism rs5758550 and rs16947 (*2 allele): implications for CYP2D6 genotyping panels	Balmiki Ray 1, Eren Ozcagli 2, Wolfgang Sadee 3, Danxin Wang 3 4	03-01-2019
Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study	John F Greden 1, Sagar V Parikh 2, Anthony J Rothschild 3, Michael E Thase 4, Boadie W Dunlop 5, Charles DeBattista 6, Charles R Conway 7, Brent P Forester 8, Francis M Mondimore 9, Richard C Shelton 10, Matthew Macaluso 11, James Li 12, Krystal Brown 13, Alexa Gilbert 12, Lindsey Burns 12, Michael R Jablonski 12, Bryan Dechairo 14	01-04-2019
Adequate evidence to support improved outcomes in depression by primary care physicians compared to psychiatrists when using combinatorial pharmacogenomics	Julie-Anne Tanner 1, Paige E Davies 2, Nicholas C Voudouris 3, Bryan M Dechairo 4, James L Kennedy 5	11-15-2018
Combinatorial pharmacogenomics and improved patient outcomes in depression: Treatment by primary care physicians or psychiatrists	Julie-Anne Tanner 1, Paige E Davies 2, Nicholas C Voudouris 3, Anashe Shahmirian 4, Deanna Herbert 4, Nicole Braganza 4, Ana Gugila 2, Bryan M Dechairo 5, James L Kennedy 6	07-21-2018
Analytical validation of a psychiatric pharmacogenomic test	Michael R Jablonski 1, Nina King 1, Yongbao Wang 1, Joel G Winner 1, Lucas R Watterson 1, Sandra Gunselman 1, Bryan M Dechairo 1	02-07-2018
Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate	Richard C Crist 1, James Li 2, Glenn A Doyle 1, Alex Gilbert 2, Bryan M Dechairo 2, Wade H Berrettini 1	01-15-2018
Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics	Duan Liu 1, Balmiki Ray 1 2, Drew R Neavin 3, Jiabin Zhang 1 4, Arjun P Athreya 1 5, Joanna M Biernacka 6, William V Bobo 7, Daniel K Hall-Flavin 7, Michelle K Skime 7, Hongjie Zhu 8 9 10, Gregory D Jenkins 6, Anthony Batzler 6, Krishna R Kalari 6, Felix Boakye-Agyeman 1 11, Wayne R Matson 12 13, Swati S Bhasin 12 13, Taisei Mushiroda 14, Yusuke Nakamura 15, Michiaki Kubo 14, Ravishankar KIyer 5, Liewei Wang 1, Mark A Frye 7, Rima Kaddurah-Daouk 16 17 18, Richard M Weinshilboum 19	01-10-2018
Economic Utility: Combinatorial Pharmacogenomics and Medication Cost Savings for Mental Health Care in a Primary Care Setting	Lisa C Brown 1, Raymond A Lorenz 1, James Li 1, Bryan M Dechairo 2	02-17-2017
Use of combinatorial pharmacogenomic testing in two cases from community psychiatry	Eve S Fields 1, Raymond A Lorenz 2, Joel G Winner 2	08-16-2016
Preservation of Biospecimens at Ambient Temperature: Special Focus on Nucleic Acids and Opportunities for the Biobanking Community	Rolf Muller 1, Fay Betsou 2, Michael G Barnes 3, Keith Harding 4, Jacques Bonnet 5 6, Olga Kofanova 2, John H Crowe 7, International Society for Biological and Environmental Repositories (ISBER) Biospecimen Science Working Group	02-17-2016
Stress and glucocorticoid receptor transcriptional programming in time and space: Implications for the brain-gut axis	J W Wiley 1, G A Higgins 2 3, B D Athey 3	01-25-2016
Combinatorial Versus Individual Gene Pharmacogenomic Testing in Mental Health: A Perspective on Context and Implications on Clinical Utility	Joel G Winner 1, Bryan Dechairo 1	11-24-2015
A glutamatergic network mediates lithium response in bipolar disorder as defined by epigenome pathway analysis	Gerald A Higgins 1 2, Ari Allyn-Feuer 1, Edward Barbour 1, Brian D Athey 1 3	09-07-2015
Epigenomic mapping and effect sizes of noncoding variants associated with psychotropic drug response	Gerald A Higgins 1 2, Ari Allyn-Feuer 1, Brian D Athey 1 3	09-04-2015
The epigenome, 4D nucleome and next-generation neuropsychiatric pharmacogenomics	Gerald A Higgins 1 2, Ari Allyn-Feuer 2, Samuel Handelman 3, Wolfgang Sadee 3, Brian D Athey 2 4	09-04-2015
Combinatorial pharmacogenomic guidance for psychiatric medications reduces overall pharmacy costs in a 1 year prospective evaluation	Joel G Winner 1, Joseph M Carhart 1, C Anthony Altar 1, Seth Goldfarb 2, Josiah D Allen 1, Gabriela Lavezzari 2, Kelly K Parsons 2, Andrew G Marshak 1, Susan Garavaglia 2, Bryan M Dechairo 1	07-23-2015
The clinical validity and utility of combinatorial pharmacogenomics: Enhancing patient outcomes	Joachim Benitez 1, Michael R Jablonski 2, Josiah D Allen 2, Joel G Winner 3	03-24-2015
Clinical validity: Combinatorial pharmacogenomics predicts antidepressant responses and healthcare utilizations better than single gene phenotypes	C A Altar 1, J M Carhart 1, J D Allen 1, D K Hall-Flavin 2, B M Dechairo 1, J G Winner 1	02-17-2015

Title	Author	Conference	Publication Date
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis	Ashley Archer		09-10-2020

Title	Author	Publication Date
A Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder	Elizabeth Cogan	12-08-2021
A Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder	Gautham Kartha	11-03-2021
Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis	Clement Zai	10-27-2021
Evaluating the role of pharmacogenetics in attention-deficit/hyperactivity disorder using human hepatocytes and enzyme inhibition in human liver microsomes	Rebecca A. Law	10-18-2021
Combinatorial pharmacogenomic testing for patients with MDD has greatest potential utility for individuals taking medications with significant gene-drug Interactions	Gautham Kartha	09-28-2021
Combinatorial pharmacogenomic testing for patients with MDD has greatest potential utility for individuals taking medications with significant gene-drug interactions	John F. Greden	09-21-2021
A Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder	Sagar V. Parikh	09-21-2021
Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis	James L. Kennedy	06-04-2021
Combinatorial pharmacogenomics in MDD has greatest potential utility for patients taking medications with significant gene-drug interactions	John Greden	05-01-2021
Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder	Sagar Parikh	05-01-2021
Pharmacogenetics of Clozapine-induced Agranulocytosis: A Systematic Review and Meta-Analysis	Farhana Islam	04-29-2021
Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis	Arun Tiwari	04-29-2021
The Clinical Utility of Combinatorial Pharmacogenetic Testing for Patients with Depression: A Meta‐Analysis	Rachel Daut	03-18-2021
Pharmacogenomic Testing to Inform Prescribing in Patients with Behavioral and Psychiatric Symptoms of Dementia (BPSD): Results from Two Small, Randomized, Controlled Trials	Julie-Anne Tanner	03-15-2021
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis	John Greden	02-08-2021
Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial	James Kennedy	12-06-2020
Combinatorial Pharmacogenomic Testing Outperforms Individual Pharmacokinetic Gene Guidelines When Predicting Blood Levels of Psychotropic Medications and Clinical Outcomes in Patients with Depression	Anthony J. Rothschild	12-06-2020
Defining and Measuring Safety of Combinatorial Pharmacogenomic Testing for Patients with Major Depressive Disorder (MDD)	Sagar Parikh	11-05-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis	Rachel Daut	10-16-2020
Primary, Secondary, and Meta-Analyses in Pharmacogenomics Clinical Trials: Where is Truth?	Julie-Anne Tanner	10-16-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis	Bondee Mansaray	10-13-2020
Defining and Measuring Safety of Combinatorial Pharmacogenomic Testing for Patients with Major Depressive Disorder (MDD)	Sagar Parikh	10-01-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis	Talal Al Habbab	09-10-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis	Rachel Daut	09-09-2020
Association of Single-Nucleotide Polymorphisms of C-Reactive Protein Gene with C-Reactive Protein Blood Levels and Outcomes in Treatment-Resistant Bipolar Depression Treated with Escitalopram and Celecoxib	Angelos Halaris	05-01-2020
Combinatorial Pharmacogenomic Testing Improves Outcomes for Patients Taking Medications with Gene-Drug Interactions in a Randomized, Controlled Trial	Gautham Kartha	04-26-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis	Rahul Sehgal	04-26-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis	Oliver Vranjkovic	03-19-2020
Combinatorial Pharmacogenomic Algorithm is Predictive of Citalopram and Escitalopram Metabolism in Patients with Major Depressive Disorder	Aime Lopez Aguilar	02-20-2020

Title	Author	Reference	Sample Type	Patient Count	Primary Endpoint
The clinical cell-cycle risk (CCR) score is associated with metastasis after radiation therapy and provides guidance on when to forgo combined androgen deprivation therapy with dose-escalated radiation	Jonathan Tward , Lauren Lenz , Darl D Flake 2nd, Saradha Rajamani , Carl Olsson, Deepak A Kapoor, Constantine Mantz , Stanley L Liauw, Tatjana Antic, Neal Shore, Dan Albertson, Jonathan Henderson, Steve P Lee, Hiram A Gay, Jeff Michalski, Arthur Hung, David Raben, Isla Garraway, Michael S Lewis, Paul L Nguyen, David T Marshall, Michael K Brawer, Steven Stone, Todd Cohen	International Journal of Radiation Oncology, Biology, Physics	Biopsy	741	Metastases
Validation of the cell cycle progression score to differentiate indolent from aggressive prostate cancer in men diagnosed through transurethral resection of the prostate biopsy	Jack M Cuzick , Steven Stone, Lauren Lenz, Darl D Flake , Saradha Rajamani , Henrik Moller , Daniel Maurice Berney , Todd Cohen , Peter T Scardino	Cancer Reports	TURP	305	Mortality
Cell-cycle risk score more accurately determines the risk for metastases and death in prostatectomy patients compared with clinical features alone	Gregory P. Swanson, Lauren Lenz, Steven Stone, Todd Cohen	The Prostate	Radical Prostatectomy	360	Metastases Mortality
Personalizing localized prostate cancer: Validation of a combined clinical cell-cycle risk (CCR) score threshold for prognosticating benefit from multimodality therapy	Jonathan D. Tward, Thorsten Schlomm, Stephen Bardot, Daniel J. Canter, Troy Scroggins, Stephen J. Freedland, Lauren Lenz, Darl D. Flake, Todd Cohen, Michael K. Brawer, Steven Stone, Jay Bishoff	Clinical Genitourinary Cancer	Biopsy	718	Metastases
Prognostic capabilities and clinical utility of cell cycle progression testing, prostate imaging reporting and data system, version 2, and clinicopathologic data in management of localized prostate cancer	David S. Morris, J. Scott Woods, Byard Edwards, Lauren Lenz, Jennifer Logan, Darl D. Flake, Brent Mabey, Jay T. Bishoff, Todd Cohen, Steve Stone	Urologic Oncology	Biopsy	222	Adverse Pathology
Multiple Tissue Biomarkers Independently and Additively Predict Prostate Cancer Pathology Outcomes	Matthew R. Cooperberg, Janet E. Cowan, Karla J. Lindquist, Yasuko Kobayashi, Jeffry P. Simko, Henrik Bengtsson, Khushboo Singh, Vy Ngo, Andrew Avila, Lisa F. Newcomb, Maria Tretriakova, Daniel W. Lin, Steven Stone, Peter R. Carroll, Pamela L. Paris		Biopsy	641	Adverse Pathology
Analysis of the prognostic utility of the cell cycle progression (CCP) score generated from needle biopsy in men treated with definitive therapy	Daniel J. Canter, Stephen Freedland, Saradha Rajamani, Maria Latsis, Margaret Variano, Shams Halat, Jonathan Tward, Todd Cohen, Steven Stone, Thorsten Schlomm, Jay Bishoff, Stephen Bardot	Prostate Cancer and Prostatic Diseases	Biopsy	1062	Metastases
Clinical outcomes in men with prostate cancer who selected active surveillance using a clinical cell-cycle risk score	Sanjeev Kaul, Kirk J. Wojno, Steven Stone, Brent Evans, Ryan Bernhisel, Stephanie Meek, Richard E. D’Anna, Jeffrey Ferguson, Jeffrey Glaser, Todd M. Morgan, Jeremy Lieb, Robert Yan, Todd Cohen, Behfar Ehdaie	Personalized Medicine	Biopsy	664	Biochemical Recurrence
Comparison of cell cycle progression score with two immunohistochemical markers (PTEN and Ki-67) for predicting outcome in prostate cancer after radical prostatectomy	Priscilla LéonEmail author, Geraldine Cancel-Tassin, Sara Drouin, Marie Audouin, Justine Varinot, Eva Comperat, Xavier Cathelineau, François Rozet, Christophe Vaessens, Steven Stone, Julia Reid, Zaina Sangale, Patrick Korman, Morgan Rouprêt, Gaelle Fromond-Hankard, Olivier Cussenot		Radical Prostatectomy	652	Biochemical Recurrence
Comparing the Prognostic Utility of the CCP Score for Predicting Clinical Outcomes in African American and Non-African American Men with Localized Prostate Cancer	Daniel J. Canter, MD, Julia Reid, MStat, Maria Latsis, MS, CCRC, Margaret Variano, MPH, Shams Halat, MD, Saradha Rajamani, MStat, Kristen E. Gurtner, MD, Zaina Sangale, MD, Michael Brawer, MD, Steven Stone, PhD, Stephen Bardot, MD		Biopsy	767	Metastases
PROLARIS AS THRESHOLD VALIDATED IN A COHORT OF CONSERVATIVELY MANAGED MEN	Lin DW, Crawford ED, Keane T, Evans B, Reid J, Rajamani S, Brown K, Gutin A, Tward J, Scardino P, Brawer M, Stone S, Cuzick J.		Biopsy	585	Mortality
Prognostic Utility of Biopsy-Derived Cell Cycle Progression Score in Patients with NCCN Low-Risk Prostate Cancer Undergoing Radical Prostatectomy: Implications for Treatment Guidance	Jeffrey T. Tosoian, Meera R. Chappidi, Jay T. Bishoff, Stephen J. Freedland, Julia Reid, Michael Brawer, Steven Stone, Thorsten Schlomm, Ashley E. Ross		Biopsy	236	Biochemical Recurrence
Use of the cell cycle progression (CCP) score for predicting systemic disease and response to radiation of biochemical recurrence	Michael O. Koch, Jane S. Cho, Hristos Z. Kaimakliotis, Liang Cheng, Zaina Sangale, Michael Brawer, William Welbourn, Julia Reid and Steven Stone	Koch MO et al., Cancer Biomarkers. 2016;17(1):83-88.	Radical Prostatectomy	47	Metastases Biochemical Recurrence
Validation of an RNA cell cycle progression score for predicting death from prostate cancer in a conservatively managed needle biopsy cohort	J. Cuzick, S. Stone, G. Fisher, Z. H. Yang, B. V. North, D. M. Berney, L. Beltran, D. Greenberg, H. Moller, J. E. Reid, A. Gutin, J. S. Lanchbury, M. Brawer, P. Scardino		Biopsy	761	Mortality
Prognostic utility of the cell cycle progression score generated from biopsy in men treated with prostatectomy	J. T. Bishoff, S. J. Freedland, L. Gerber, P. Tennstedt, J. Reid, W. Welbourn, M. Graefen, Z. Sangale, E. Tikishvili, J. Park, A. Younus, A. Gutin, J. S. Lanchbury, G. Sauter, M. Brawer, S. Stone, T. Schlomm		Biopsy	585	Metastases Biochemical Recurrence
Prognostic utility of cell cycle progression score in men with prostate cancer after primary external beam radiation therapy	S. J. Freedland, L. Gerber, J. Reid, W. Welbourn, E. Tikishvili, J. Park, A. Younus, A. Gutin, Z. Sangale, J. S. Lanchbury, J. K. Salama, S. Stone		Biopsy	141	Biochemical Recurrence
Prognostic value of a cell cycle progression signature for prostate cancer death in a conservatively managed needle biopsy cohort	J. Cuzick, D. M. Berney, G. Fisher, D. Mesher, H. Moller, J. E. Reid, M. Perry, J. Park, A. Younus, A. Gutin, C. S. Foster, P. Scardino, J. S. Lanchbury, S. Stone, G. Transatlantic Prostate		Biopsy	349	Mortality
Validation of a Cell-Cycle Progression Gene Panel to Improve Risk Stratification in a Contemporary Prostatectomy Cohort	Matthew R. Cooperberg, Jeffry P. Simko, Janet E. Cowan, Julia E. Reid, Azita Djalilvand, Satish Bhatnagar, Alexander Gutin, Jerry S. Lanchbury, Gregory P. Swanson, Steven Stone, Peter R. Carroll	Journal of Clinical Oncology, 2012	Radical Prostatectomy	413	Biochemical Recurrence
Prognostic Value of an RNA Expression Signature Derived from Cell Cycle Proliferation Genes in Patients with Prostate Cancer: A Retrospective Study	Jack Cuzick, Gregory P Swanson, Gabrielle Fisher, Arthur R Brothman, Daniel M Berney, Julia E Reid, David Mesher, VO Speights, Elzbieta Stankiewicz, Christopher S Foster, Henrik Møller, Peter Scardino, Jorja D Warren, Jimmy Park, Adib Younus, Darl D Flake, Susanne Wagner, Alexander Gutin, Jerry S Lanchbury , Steven Stone, on behalf of the Transatlantic Prostate Group		Radical Prostatectomy TURP	703	Mortality Biochemical Recurrence

Title	Author	Reference	Sample Type	Patient Count
Prognostic capabilities and clinical utility of cell cycle progression testing, prostate imaging reporting and data system, version 2, and clinicopathologic data in management of localized prostate cancer	David S. Morris, J. Scott Woods, Byard Edwards, Lauren Lenz, Jennifer Logan, Darl D. Flake, Brent Mabey, Jay T. Bishoff, Todd Cohen, Steve Stone	Urologic Oncology	Biopsy	222
Clinical Utility of Gene Expression Classifiers in Men With Newly Diagnosed Prostate Cancer	Jonathan C. Hu, Jefrey J. Tosoian, Ji Qi, Deborah Kaye, Anna Johnson, Susan Linsell, James E. Montie, Khurshid R. Ghani, David C. Miller, Kirk Wojno, Frank N. Burks, Daniel E. Spratt, Todd M. Morgan		Biopsy	747
Clinical outcomes in men with prostate cancer who selected active surveillance using a clinical cell-cycle risk score	Sanjeev Kaul, Kirk J. Wojno, Steven Stone, Brent Evans, Ryan Bernhisel, Stephanie Meek, Richard E. D’Anna, Jeffrey Ferguson, Jeffrey Glaser, Todd M. Morgan, Jeremy Lieb, Robert Yan, Todd Cohen, Behfar Ehdaie	Personalized Medicine 2019	Biopsy	664
PROLARIS AS THRESHOLD VALIDATED IN A COHORT OF CONSERVATIVELY MANAGED MEN	Lin DW, Crawford ED, Keane T, Evans B, Reid J, Rajamani S, Brown K, Gutin A, Tward J, Scardino P, Brawer M, Stone S, Cuzick J.		Biopsy	585
Impact of the Cell Cycle Progression Test on Physician and Patient Treatment Selection for Localized Prostate Cancer	N. D. Shore, N. Kella, B. Moran, J. Boczko, F. J. Bianco, E. D. Crawford, T. Davis, K. M. Roundy, K. Rushton, C. Grier, R. Kaldate, M. K. Brawer, M. L. Gonzalgo		Biopsy	1,206
Cell cycle progression score and treatment decisions in prostate cancer: results from an ongoing registry	E. D. Crawford, M. C. Scholz, A. J. Kar, J. E. Fegan, A. Haregewoin, R. R. Kaldate, M. K. Brawer		Biopsy	331

Title	Author	Reference	Sample Type
Analytical Validation of a Cell Cycle Progression Signature Used as a Prognostic Marker in Prostate Cancer	Warf, B. M, Reid, E. Julia, Brown, L. Krystal, Kimbrell, Hillary, Kolquist, A. Kathryn, Stone, R. Steven and, Benjamin		Radical Prostatectomy Biopsy

Title	Author	Reference
Personalize prostate cancer treatment decisions based on consistent data	Myriad Genetic Laboratories - White Paper
The clinical cell-cycle risk score is associated with metastasis after radiation therapy and may identify men with prostate cancer who can forgo combined androgen deprivation therapy	Jonathan Tward
Health economic impact of a biopsy- cell cycle gene expression assay in localized prostate cancer	Gary Gustavsen, Kelsey Taylor, Doria Cole, Laura Gullet & Nicolas Lewine	Future Medicine 12/2019
Applying Prolaris Data to Simon Evidentiary Framework	Myriad Genetic Laboratories - White Paper
Clinical utility of a biopsy-based cell cycle gene expression assay in localized prostate cancer	N. Shore, R. Concepcion, D. Saltzstein, M. S. Lucia, A. van Breda, W. Welbourn, N. Lewine, G. Gustavsen, K. Pothier, M. K. Brawer	Curr. Med. Res. Opin., 2013

Title	Author	Conference	Publication Date
Combined Clinical Risk score-based thresholds across National Comprehensive Cancer Network (NCCN) intermediate risk patients with prostate cancer	Jonathan D Tward MD,PhD, lauren Lenz MS, Adam Cole MD, Jason Hafrom MD, Edward Uchio MD, Robert Finch CGC, Sarah Tatzel PHD, Thomas Slavin MD, Todd Cohen MD		11-04-2022
Cell Cycle Progression score and PTEN as prognostic factors for metastasis in intermediate and high-risk prostate cancer overall, and in those who also received salvage radiotherapy	Bruce J. Trock, Brent Maybey, Saradha Rajamani, Stephanie A. Glavaris, Gunes Guner, Unur Ertunc, Ibrahim Julac, Javier A. Baena, Tracy Jones, Misop Han, Alan W. Partin, Todd Cohen, Steven Stone, Angelo M. De Marzo Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore MD, Myriad Genetics, Inc., Salt Lake City, UT, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD		09-15-2021
The clinical cell-cycle risk score is associated with metastasis after radiation therapy and may identify men with prostate cancer who can forgo combined androgen deprivation therapy	Todd Cohen		07-14-2021
Cell Cycle Progression Score and PTEN as Prognostic Factors for Metastasis in Intermediate-and High-Risk Prostate Cancer Overall and in Men who also Received Salvage Radiotherapy	Bruce Trock		02-11-2021
Cell Cycle Progression score and PTEN as prognostic factors for metastasis in intermediateand high-risk prostate cancer overall, and in those who also received salvage radiotherapy	Bruce Trock		01-01-2021
Ability of cell cycle progression score to predict risk for progression to metastatic disease and disease-specific mortality in prostate cancer patients after prostatectomy	Gregory Swanson		05-29-2020
Renal Biopsy Cell Cycle Proliferation (CCP) Score Predicts Adverse Surgical Pathology in Renal Cell Carcinoma	Jeffrey J. Tosoian, Adam S. Feldman, Madeline R. Abbott, Rohit Mehra, PlacedeTiemeny, J. Stuart Wolf, Jr., Steven Stone, ShulinWu, Stephanie Daignault-Newton, Jeremy M.G. Taylor, Chin-Lee Wu, Todd M. Morgan		04-08-2020
Renal Biopsy Cell Cycle Proliferation (CCP) Score Predicts Adverse Surgical Pathology in Renal Cell Carcinoma	Jeff Tosoian		02-15-2020
Ability of the Combined Clinical-Cell Cycle Risk Score to Identify Patients who Benefit from Multi versus Single Modality Therapy in NCCN Intermediate and High Risk Prostate Cancer			02-13-2020
Ability of the Combined Clinical-Cell Cycle Risk Score to Identify Patients who Benefit from Multi versus Single Modality Therapy in NCCN Intermediate and High Risk Prostate Cancer	Jonathan Tward		02-13-2020
PROGNOSTIC AND CLINICAL UTILITY CAPABILITIES OF CELL CYCLE PROGRESSION TESTING, PROSTATE IMAGING-REPORTING AND DATA SYSTEM SCORING, AND CLINICOPATHOLOGIC DATA IN MANAGEMENT OF LOCALIZED PROSTATE CANCER	Steve Stone		01-23-2020
PROGNOSTIC AND CLINICAL UTILITY CAPABILITIES OF CELL CYCLE PROGRESSION TESTING, PROSTATE IMAGING-REPORTING AND DATA SYSTEM SCORING, AND CLINICOPATHOLOGIC DATA IN MANAGEMENT OF LOCALIZED PROSTATE CANCER			01-13-2020
PROGNOSTIC AND CLINICAL UTILITY CAPABILITIES OF CELL CYCLE PROGRESSION TESTING, PROSTATE IMAGING-REPORTING AND DATA SYSTEM SCORING, AND CLINICOPATHOLOGIC DATA IN MANAGEMENT OF LOCALIZED PROSTATE CANCER	David Morris		12-04-2019
PROGNOSTIC AND CLINICAL UTILITY CAPABILITIES OF CELL CYCLE PROGRESSION TESTING, PROSTATE IMAGING-REPORTING AND DATA SYSTEM SCORING, AND CLINICOPATHOLOGIC DATA IN MANAGEMENT OF LOCALIZED PROSTATE CANCER	David Morris		12-04-2019
Pooled Analysis of the Prognostic Utility of the Cell Cycle Progression Score Generated from Needle Biopsy in Men Definitively Treated for Localized Prostate Cancer	Kristen Gurtner		03-15-2019
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery	Kristen Gurtner		03-14-2019
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery	Daniel Canter		01-25-2019
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery	Steve Stone		01-24-2019
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery	Kristen Gurtner		01-01-2019
Outcomes of Men with Prostate Cancer Managed with Active Surveillance and Tested with a Clinical Cell-Cycle Risk Score	Sanjeev Kaul		01-01-2019
Inherited Germline Mutations in Men with Primary and Secondary Prostate Cancer	Edward Uchio, MD; Greg Gin, MD; Cory Hugen, MD; Karen Copeland, MS, MBA; Katie Larson, MS; Ryan Bernhisel, MStat; Kaylee Henson, MS, CGC; Johnathan Lancaster, MD, PhD; Todd Cohen, MD		11-28-2018
Renal Biopsy Cell Cycle Proliferation (CCP) Score Predicts Adverse Surgical Pathology in Renal Cell Carcinoma	Jeffrey J. Tosoian, MD, MPH Fellow		11-28-2018
Evaluation of Microarrays for Measuring CCP Gene Expression	Adam Cole, MD; Darl D. Flake, II, PhD; Saradha Rajamani, MStat; Todd Cohen, MD; Steve Stone, PhD		11-01-2018
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery	Daniel J. Canter		10-28-2018
Pooled Analysis of the Prognostic Utility of the Cell Cycle Progression Score Generated from Needle Biopsy in Men Definitively Treated for Localized Prostate Cancer	Daniel J. Canter, Jay Bishoff, Stephen Freedland, Julia Reid, Saradha Rajamani, Maria Latsis, Margaret Variano, Shams Halat, Michael Brawer, Steven Stone, Thorsten Schlomm, Stephen Bardot		05-18-2018
Evaluating cell cycle progression score as a prognostic marker for non-muscle invasive bladder cancer (NMIBC)	Christopher Weight		02-09-2018
Evaluation of a predefined active surveillance threshold in a large cohort of men with localized prostate cancer	Daniel Canter		02-08-2018
Evaluating the Impact of African American Ancestry among Men with Localized Prostate Cancer Treated with Radical Prostatectomy	Daniel Canter		02-08-2018
Patient Risk Reclassification Based on Combined ClinicalCell Cycle Risk (CCR) Score	Edward Uchio, Steven Stone, Ryan Bernhisel, E. David Crawford, Michael Brawer		08-08-2017
Patient NCCN Risk Classification Based on Combined Clinical Cell Cycle Risk (CCR) Score	E. David Crawford, Steven Stone, Julia E. Reid, Michael K. Brawer		05-16-2017
Comparing the Prognostic Utility of the CCP Score for Predicting Metastatic Disease in African American and Non-African American Men with Prostate Cancer	Stephen Bardot, Daniel Canter, Julia Reid, Maria Latsis, Margaret Variano, Shams Halat, Zaina Sangale, Michael Brawer, Steven Stone		05-12-2017
Prognostic Utility of Biopsy-Derived Cell Cycle Progression Score in Patients with NCCN Low-Risk Prostate Cancer Undergoing Radical Prostatectomy: Implications for Treatment Guidance	Jeffrey J. Tosoian, Meera R. Chappidi, Jay T. Bishoff, Stephen J. Freedland, Julia E. Reid, Michael K. Brawer, Steven Stone, Thorsten Scholomm, Ashley E. Ross		05-12-2017
The Impact of Clinical CCP Testing in Men with Localized Prostate Cancer for Expanding the Population of Men Eligible for Active Surveillance	Behfar Ehdaie, Steve Stone, Ryan Bernhisel, James Eastham, Thomas Keane, John Davis, E. David Crawford, Michael Brawer, Daniel Lin, Peter Scardino		05-12-2017
Patient NCCN Risk Classification Based on Combined Clinical Cell Cycle Risk (CCR) Score	Steven Stone, Julia E. Reid, Michael K. Brawer		02-17-2017
The Impact of Clinical CCP Testing in Men with Localized Prostate Cancer for Expanding the Population of Men Eligible for Active Surveillance	Behfar Ehdaie, Steve Stone, Ryan Bernhisel, James Eastham, Thomas Keane, John Davis, E.David Crawford, Michael Brawer, Daniel Lin, Peter Scardino		12-01-2016
Development and Validation of an Active Surveillance Threshold Based on the CCP score and CAPRA to Predict Risk of Aggressive Disease	Daniel W. Lin, E. David Crawford, Thomas E. Keane, Brent Evans, Julia E. Reid, Alexander S. Gutin, Jonathan D. Tward, Peter T. Scardino, MD, Michael K. Brawer, Steven Stone, Jack Cuzick		10-24-2016
Reduction in Therapeutic Burden from Use of CCP Test in Treatment Decisions among Newly Diagnosed Prostate Cancer Patients Independent of Charlson Comorbidity Index (CCI)	E. David Crawford, Matthew R. Cooperberg, Daniel W. Lin, Jonathan D. Tward, Rajesh Kaldate, Steve Stone, Michael K. Brawer, Neal D. Shore		10-24-2016
Evaluation of Microarrays for Measuring CCP Gene Expression	Matthew R. Cooperberg, Steven Stone, Darl D. Flake II, John W. Davis, Judd W. Moul, Jonathan D. Tward, Michael K. Brawer		10-24-2016
The CCP score provides significant prognostic information in Gleason score <7 patients	Mitchell R. Bassett, Jay T. Bishoff, Stephen J. Freedland, Thorsten Schlomm, Julia E. Reid, Brent Evans, Michael K. Brawer, Steven Stone, Jack Cuzick		10-24-2016
The CCP Score Provides Significant Prognostic Information in Gleason Score ≤ 6 Patients	Jay T. Bishoff, Stephen J. Freedland, Thorsten Schlomm, Julia E. Reid, Michael K. Brawer, Steven Stone, Jack Cuzick		05-06-2016
Significant Reduction in Theraputic Burden from Use of CCP Test in Treatment Decisions Among Newly Diagnosed Prostate Cancer Patients in a Large Prospectice Registry	Brian Willard; Todd Cohen; Neal Shore; Judd Boczko; Naveen Kella; Brian J Moran; Fernando J Bianco; E David Crawford; Rajesh Kaldate; Michael K Brawer; Mark L Gonzalgo		03-17-2016
Application of Active Surveillance Threshold to Series of Samples Submitted for Commercial Testing	Peter Scardino, Jack Cuzick, Steve Stone, Brent Evans, Matthew Jorgensen, James Eastham, Tom Keane, John Davis, Daniel Lin, Judd Moul, Michael Brawer, E. David Crawford		01-07-2016
Significant Reduction in Therapeutic Burden from Use of CCP Test in Treatment Decisions among Newly Diagnosed Prostate Cancer Patients in a Large Prospective Registry	Neal Shore, Judd Boczko, Naveen Kella, Brian J. Moran, Fernando J. Bianco, E. David Crawford, Stephanie A. Hamilton, Rajesh Kaldate, Kirstin M. Roundy, Michael K. Brawer, Mark L. Gonzalgo		12-02-2015
Significant Reduction in Therapeutic Burden from Use of CCP Test in Treatment Decisions among Newly Diagnosed Prostate Cancer Patients in a Large Prospective Registry	Philip Weintraub, Neal Shore, Adam Blatt, Shahin Chandrasoma, Lawrence Flechner, Gregory Barme, Judd Boczko, Naveen Kella, Brian J. Moran, Fernando J. Bianco, E. David Crawford, Rajesh Kaldate, Michael K. Brawer, Mark L. Gonzalgo		10-26-2015
Performance of CCP Assay in an Updated Series of Biopsy Samples Obtained from Commercial Testing	John W. Davis, E. David Crawford, Neal Shore, Peter T. Scardino, Jonathan D. Tward, Lowndes Harrison, Karen Kunz, Brent Evans, Lisa FitzGerald, Steven Stone, Michael K. Brawer		06-01-2015
Patient AUA Risk Classification Based on Combined Clinical Cell Cycle Risk (CCR) Score	Jack Cuzick, Steven Stone, Julia Reid, Gabrielle Fisher, Henrik Møller, Michael Brawer, Peter Scardino, Neal Shore		05-15-2015
Validation of an Active Surveillance Threshold for the CCP Score in Conservatively Managed Men with Localized Prostate Cancer	Jack Cuzick, Steven Stone, Gabrielle Fisher, Zi Hua Yang, Bernard V. North, Daniel M. Berney, Luis Beltran, David C. Greenberg, Henrik Moller, Julia E. Reid, Alexander Gutin, Jerry S. Lanchbury, Michael K. Brawer, Peter T. Scardino		05-15-2015
Evaluation of the Economic Impact of the CCP Assay in Localized Prostate Cancer	E. David Crawford, Doria Cole, Nicolas Lewine, Gary Gustavsen		02-26-2015
Predicting Radical Prostatectomy Outcome Among Men Who Upgrade from Clinical Gleason 6 to Pathologic Gleason 7	Matthew Cooperberg, Stephen J. Freedland, Thorsten Schlomm, Jula E. Reid, Steven Stone, Michael K. Brawer		05-20-2014
Prognostic Utility of the Cell Cycle Progression (CCP) Score Generated from Needle Biopsy in Men Treated with Prostatectomy	Jay T. Bishoff, Stephen J. Freedland, Leah Gerber, Pierre Tennstedt, Julia Reid, William Welbourn, Markus Graefen, Zaina Sangale, Eliso Tikishvili,Jimmy Park, Adib Younus, Alexander Gutin, Jerry S. Lanchbury, Guido Sauter, Michael Brawer, Steven Stone, Thorsten Schlomm		05-20-2014
Validation of a 46-Gene Cell Cycle Progression (CCP) RNA Signature for Predicting Prostate Cancer Death in a Conservatively Managed Watchful Waiting Needle Biopsy Cohort	Jack Cuzick, Steven Stone, Zi Hua Yang, Julia Reid, Gabrielle Fisher, Daniel Berney, Luis Beltran, Henrik Moller, David Greenberg, Michael Brawer, Alexander Gutin, Jerry Lanchbury, Peter Scardino		05-20-2014
Cell Cycle Progression-Combined Risk Score Stratifies Prostate Cancer Risk and Significantly Modifies Treatment Decisions in Prostate Cancer	Michael K. Brawer, E. David Crawford, Neal Shore, Peter Scardino, John W. Davis, Jonathan Tward, Lowndes Harrison, Ashok Kar, Mark Scholz, Jeffery Fegan, Kelsey Moyes, Rajesh Kaldate, Lisa Fitzgerald, Steven Stone		02-20-2014
Cell Cycle Progression (CCP) Score Significantly Modifies Treatment Decisions in Prostate Cancer: Results of an Ongoing Registry Trial	Ashok J. Kar, Mark Creamer Scholz, Jeffrey E. Fegan, E. David Crawford, Peter T. Scardino, Rajesh R. Kaldate, Michael K. Brawer		01-31-2014
CCP Score Stratifies Risk for Prostate Cancer Patients at Biopsy: Initial Commercial Results	E. David Crawford, Neal Shore, Peter T. Scardino, John W. Davis, Jonathan D. Tward, Lowndes Harrison, Kelsey Moyes, Lisa Fitzgerald, Steven Stone, Michael K. Brawer		12-06-2013
The CCP Score: A Novel Genetic Test for Prostate Cancer	Michael Brawer, Jack Cuzick, Matthew Cooperberg, Greg Swanson, Stephen Freedland, Julia Reid, Gabrielle Fisher, Jerry Lanchbury, Alexander Gutin, Steven Stone, Peter Carroll		10-31-2013
Cell Cycle Progression (CCP) Score Significantly Predicts PSA Failure After EBRT	Joseph K. Salama, Stephen J. Freedland, Leah Gerber, Julia E. Reid, William Welbourn, Alexander Gutin, Zaina Sangale, Michael K. Brawer, Steven Stone		09-22-2013
Prolaris: A Novel Genetic Test for Prostate Cancer Prognosis	Michael K. Brawer, Jack M. Cuzick, Matthew R. Cooperberg, Gregory P. Swanson, Stephen J. Freedland, Julia E. Reid, Gabrielle Fisher, Jerry S. Lanchbury, Alexander Gutin, Steven Stone, Peter Carroll, on behalf of the Transatlantic Prostate Group		05-31-2013
Validation of a cell-cycle progression gene panel to improve risk stratification in a contemporary prostatectomy cohort	M. R. Cooperberg, J. P. Simko, J. E. Cowan, J. E. Reid, A. Djalilvand, S. Bhatnagar, A. Gutin, J. S. Lanchbury, G. P. Swanson, S. Stone, P. R. Carroll	J. Clin. Oncol.	05-21-2013
Prognostic Utility of CCP Score in Men with Prostate Cancer After Primary EBRT	Stephen Freedland, Leah Gerber, Julia Reid, William Welbourn, Eliso Tikishvili, Jimmy Park, Adib Younus, Alexander Gutin, Zaina Sangale, Jerry S. Lanchbury, Joseph K. Salama, Steven Stone		05-08-2013
Value of Cell Cycle Progression Score to Predict Biochemical Recurrence and Post-Surgical Pathology	Thorsten Schlomm, Zaina Sangale, Jerry S. Lanchbury, Alexander Gutin, Julia Reid, Markus Graefen, Alexander Haese, Pierre Tennstedt, Stefan Steurer, Guido Sauter, Steve Stone		05-04-2013
Evidence for Cell Cycle Proliferation Field Effect in Prostate Cancer	David M. Berman, William Welbourn, Julia Reid, Elizabeth Humphries, Misop Han, Jerry Lanchbury, Alexander Gutin, Steven Stone, Filipe Carvalho		03-18-2013
Stratification of Risk for Patients with Prostate Cancer at Biopsy using CCP Score	Neal D. Shore, Brian Abbott, Raoul S. Concepcion, Daniel Saltzstein, Rajesh R. Kaldate, Kelsey Moyes, Arletta van Breda, Christopher Clark, Jennifer Saam, Michael K. Brawer		02-14-2013
Development and Validation of a Multivariate Model Combining Cell Cycle Progression Score with CAPRA to Predict Prostate Cancer Mortality in a Conservatively Managed Cohort	Michael Brawer, Mathew Cooperberg, Stephen Freedland, Gregory Swanson, Steven Stone, Julia Reid, Alexander Gutin, Peter Carroll, Jack Cuzick		11-28-2012
Cell Cycle Progression Genes Differentiate Indolent from Aggressive Prostate Cancer	Steven Stone, Jack Cuzick, Dan Berney, Julia Reid, David Mesher, Gabrielle Fisher, Jerry Lanchbury, Alexander Gutin, Greg Swanson, on behalf of the Transatlantic Prostate Group		02-06-2012
Validation of a Panel of Cell-Cycle Progression Genes for Improved Risk-Stratification in a Contemporary Radical Prostatectomy Cohort	Matthew R. Cooperberg, Jeffrey Simko, Janet E. Cowan, Julia E. Reid, Satish Bhatnagar, Alexander Gutin, Jerry S. Lanchbury, Steven Stone, Peter Carroll		02-02-2012
Cell Cycle Progression Genes Differentiate Indolent From Aggressive Prostate Cancer	Steven Stone, Jack Cuzick, Dan Berney, Julia Reid, David Mesher, Gabrielle Fisher, Jerry Lanchbury, Alexander Gutin, Greg Swanson, The Transatlantic Prostate Group		11-28-2011